{"id":"https://openalex.org/W2139693098","doi":"https://doi.org/10.3343/alm.2013.33.3.217","title":"Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia","display_name":"Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia","publication_year":2013,"publication_date":"2013-04-23","ids":{"openalex":"https://openalex.org/W2139693098","doi":"https://doi.org/10.3343/alm.2013.33.3.217","mag":"2139693098","pmid":"https://pubmed.ncbi.nlm.nih.gov/23667852","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3646200"},"language":"en","primary_location":{"id":"doi:10.3343/alm.2013.33.3.217","doi":"https://doi.org/10.3343/alm.2013.33.3.217","is_oa":true,"landing_page_url":"https://doi.org/10.3343/alm.2013.33.3.217","pdf_url":null,"source":{"id":"https://openalex.org/S4210169500","display_name":"Annals of Laboratory Medicine","issn_l":"2234-3806","issn":["2234-3806","2234-3814"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","kci-registered","medline","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310319466","host_organization_name":"Seoul National University","host_organization_lineage":["https://openalex.org/P4310319466"],"host_organization_lineage_names":["Seoul National University"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Laboratory Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.3343/alm.2013.33.3.217","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5038057658","display_name":"Hee Jae Huh","orcid":"https://orcid.org/0000-0001-8999-7561","observed_orcids":["https://orcid.org/0000-0001-8999-7561"]},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Hee Jae Huh","raw_affiliation_strings":["Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea","institution_ids":["https://openalex.org/I2802194831","https://openalex.org/I848706"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084835401","display_name":"Kyoo Ho Cho","orcid":"https://orcid.org/0000-0003-2402-7198","observed_orcids":["https://orcid.org/0000-0003-2402-7198"]},"institutions":[{"id":"https://openalex.org/I193775966","display_name":"Yonsei University","ror":"https://ror.org/01wjejq96","country_code":"KR","type":"education","lineage":["https://openalex.org/I193775966"]},{"id":"https://openalex.org/I4210160791","display_name":"Yonsei University Health System","ror":"https://ror.org/04sze3c15","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I193775966","https://openalex.org/I4210160791"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Kyoo-ho Cho","raw_affiliation_strings":["Department of Neurology, Yonsei University College of Medicine, Seoul, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Yonsei University College of Medicine, Seoul, Korea","institution_ids":["https://openalex.org/I193775966","https://openalex.org/I4210160791"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100347325","display_name":"Ji Eun Lee","orcid":"https://orcid.org/0000-0001-5197-7688","observed_orcids":["https://orcid.org/0000-0001-5197-7688"]},"institutions":[{"id":"https://openalex.org/I193775966","display_name":"Yonsei University","ror":"https://ror.org/01wjejq96","country_code":"KR","type":"education","lineage":["https://openalex.org/I193775966"]},{"id":"https://openalex.org/I4210160791","display_name":"Yonsei University Health System","ror":"https://ror.org/04sze3c15","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I193775966","https://openalex.org/I4210160791"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Ji Eun Lee","raw_affiliation_strings":["Department of Neurology, Yonsei University College of Medicine, Seoul, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Yonsei University College of Medicine, Seoul, Korea","institution_ids":["https://openalex.org/I193775966","https://openalex.org/I4210160791"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031605890","display_name":"Min\u2010Jung Kwon","orcid":"https://orcid.org/0000-0002-2372-0700","observed_orcids":["https://orcid.org/0000-0002-2372-0700"]},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Min-Jung Kwon","raw_affiliation_strings":["Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea","institution_ids":["https://openalex.org/I2802194831","https://openalex.org/I848706"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083448714","display_name":"Chang\u2010Seok Ki","orcid":"https://orcid.org/0000-0001-7679-8731","observed_orcids":["https://orcid.org/0000-0001-7679-8731"]},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR"],"is_corresponding":true,"raw_author_name":"Chang-Seok Ki","raw_affiliation_strings":["Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea","institution_ids":["https://openalex.org/I2802194831","https://openalex.org/I848706"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042630648","display_name":"Phil Hyu Lee","orcid":"https://orcid.org/0000-0001-9931-8462","observed_orcids":["https://orcid.org/0000-0001-9931-8462","https://orcid.org/0009-0003-9353-0595"]},"institutions":[{"id":"https://openalex.org/I193775966","display_name":"Yonsei University","ror":"https://ror.org/01wjejq96","country_code":"KR","type":"education","lineage":["https://openalex.org/I193775966"]},{"id":"https://openalex.org/I4210160791","display_name":"Yonsei University Health System","ror":"https://ror.org/04sze3c15","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I193775966","https://openalex.org/I4210160791"]}],"countries":["KR"],"is_corresponding":true,"raw_author_name":"Phil Hyu Lee","raw_affiliation_strings":["Department of Neurology, Yonsei University College of Medicine, Seoul, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Yonsei University College of Medicine, Seoul, Korea","institution_ids":["https://openalex.org/I193775966","https://openalex.org/I4210160791"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5042630648","https://openalex.org/A5083448714"],"corresponding_institution_ids":["https://openalex.org/I193775966","https://openalex.org/I2802194831","https://openalex.org/I4210160791","https://openalex.org/I848706"],"apc_list":null,"apc_paid":null,"fwci":0.6535,"has_fulltext":true,"cited_by_count":9,"citation_normalized_percentile":{"value":0.66529322,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"33","issue":"3","first_page":"217","last_page":"220"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9140999913215637,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9140999913215637,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.020500000566244125,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.016200000420212746,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/ataxia-telangiectasia","display_name":"ataxia telangiectasia","score":0.9890000224113464},{"id":"https://openalex.org/keywords/atm-gene","display_name":"ATM gene","score":0.9350000023841858},{"id":"https://openalex.org/keywords/atm-mutations","display_name":"ATM mutations","score":0.8640000224113464},{"id":"https://openalex.org/keywords/exon-skipping","display_name":"exon skipping","score":0.949999988079071},{"id":"https://openalex.org/keywords/cerebellar-ataxia","display_name":"cerebellar ataxia","score":0.8299999833106995},{"id":"https://openalex.org/keywords/oculomotor-apraxia","display_name":"oculomotor apraxia","score":0.9599999785423279},{"id":"https://openalex.org/keywords/telangiectasia","display_name":"telangiectasia","score":0.9269999861717224},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.6439999938011169}],"concepts":[{"id":"https://openalex.org/C2781196186","wikidata":"https://www.wikidata.org/wiki/Q3693493","display_name":"Choreoathetosis","level":3,"score":0.8759247064590454},{"id":"https://openalex.org/C2779486608","wikidata":"https://www.wikidata.org/wiki/Q387082","display_name":"Ataxia-telangiectasia","level":4,"score":0.8450169563293457},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.6175472736358643},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5681273341178894},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.5275815725326538},{"id":"https://openalex.org/C2780148635","wikidata":"https://www.wikidata.org/wiki/Q154709","display_name":"Cerebellar ataxia","level":3,"score":0.5017666816711426},{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.45644882321357727},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.40107691287994385},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.381115198135376},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.26790955662727356},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.24679812788963318},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17132896184921265},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.0},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D001260","descriptor_name":"Ataxia Telangiectasia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D001260","descriptor_name":"Ataxia Telangiectasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020133","descriptor_name":"Reverse Transcriptase Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035781","descriptor_name":"Siblings","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056910","descriptor_name":"Republic of Korea","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D064007","descriptor_name":"Ataxia Telangiectasia Mutated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.3343/alm.2013.33.3.217","doi":"https://doi.org/10.3343/alm.2013.33.3.217","is_oa":true,"landing_page_url":"https://doi.org/10.3343/alm.2013.33.3.217","pdf_url":null,"source":{"id":"https://openalex.org/S4210169500","display_name":"Annals of Laboratory Medicine","issn_l":"2234-3806","issn":["2234-3806","2234-3814"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","kci-registered","medline","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310319466","host_organization_name":"Seoul National University","host_organization_lineage":["https://openalex.org/P4310319466"],"host_organization_lineage_names":["Seoul National University"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Laboratory Medicine","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2647985","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3646200","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3646200","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3646200","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Ann Lab Med","raw_type":"Text"},{"id":"pmid:23667852","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23667852","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of laboratory medicine","raw_type":"Case Reports"},{"id":"pmh:oai:ir.ymlib.yonsei.ac.kr:22282913/88057","doi":null,"is_oa":true,"landing_page_url":"https://ir.ymlib.yonsei.ac.kr/handle/22282913/88057","pdf_url":"https://ir.ymlib.yonsei.ac.kr/handle/22282913/88057","source":{"id":"https://openalex.org/S4306400691","display_name":"YUHSpace (Yonsei University Medical Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I193775966","host_organization_name":"Yonsei University","host_organization_lineage":["https://openalex.org/I193775966"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"T201303421.pdf","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.3343/alm.2013.33.3.217","doi":"https://doi.org/10.3343/alm.2013.33.3.217","is_oa":true,"landing_page_url":"https://doi.org/10.3343/alm.2013.33.3.217","pdf_url":null,"source":{"id":"https://openalex.org/S4210169500","display_name":"Annals of Laboratory Medicine","issn_l":"2234-3806","issn":["2234-3806","2234-3814"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","kci-registered","medline","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310319466","host_organization_name":"Seoul National University","host_organization_lineage":["https://openalex.org/P4310319466"],"host_organization_lineage_names":["Seoul National University"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Laboratory Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9922999739646912,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[{"id":"https://openalex.org/G8405917770","display_name":null,"funder_award_id":"C-B0-206-3","funder_id":"https://openalex.org/F4320331722","funder_display_name":"Samsung Biomedical Research Institute"}],"funders":[{"id":"https://openalex.org/F4320331722","display_name":"Samsung Biomedical Research Institute","ror":"https://ror.org/037pjb504"},{"id":"https://openalex.org/F4320332195","display_name":"Samsung","ror":"https://ror.org/04w3jy968"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W1745187809","https://openalex.org/W1963539812","https://openalex.org/W1992284178","https://openalex.org/W2004486431","https://openalex.org/W2012121811","https://openalex.org/W2016057531","https://openalex.org/W2023961264","https://openalex.org/W2026565646","https://openalex.org/W2058336639","https://openalex.org/W2063681671","https://openalex.org/W2064984827","https://openalex.org/W2079052854","https://openalex.org/W2102759842","https://openalex.org/W2105637045","https://openalex.org/W2115322319","https://openalex.org/W2590577496"],"related_works":["https://openalex.org/W7095794065","https://openalex.org/W2909525716","https://openalex.org/W1983198618","https://openalex.org/W2181241989","https://openalex.org/W2897190764","https://openalex.org/W2916089753","https://openalex.org/W7096296092","https://openalex.org/W7214085498","https://openalex.org/W2954778352","https://openalex.org/W2397086233"],"abstract_inverted_index":{"Ataxia-telangiectasia":[0],"(A-T)":[1],"is":[2,10,31,123],"a":[3,87,94,113,141],"rare":[4,125],"autosomal":[5],"recessive":[6],"neurodegenerative":[7],"disorder.":[8],"It":[9],"characterized":[11],"by":[12],"early-onset,":[13],"progressive":[14,40],"cerebellar":[15,41],"ataxia,":[16,69],"oculomotor":[17,70],"apraxia,":[18,71],"choreoathetosis,":[19,72],"conjunctival":[20],"telangiectasias,":[21],"immunodeficiency,":[22],"and":[23,57,67,73,93,104],"an":[24],"increased":[25],"risk":[26],"of":[27,39,60,75,80,98,130,143,155],"malignancy.":[28],"Although":[29],"A-T":[30,122,131,144],"known":[32,88],"to":[33],"be":[34,136,146],"the":[35,55,76,81,109,128,152],"most":[36],"common":[37],"cause":[38],"ataxia":[42],"in":[43,51,126,132,148],"childhood,":[44],"there":[45],"have":[46],"been":[47],"no":[48],"confirmed":[49],"cases":[50],"Korea.":[52],"We":[53,138],"report":[54],"clinical":[56,153],"genetic":[58],"findings":[59],"Korean":[61,133,149],"siblings":[62],"who":[63],"presented":[64],"with":[65],"limb":[66],"truncal":[68],"telangiectasias":[74],"eyes.":[77],"Sequence":[78],"analysis":[79,106],"ataxia-telangiectasia":[82],"mutated":[83],"(ATM)":[84],"gene":[85],"revealed":[86,107],"missense":[89],"mutation":[90],"(c.8546G>C;":[91],"p.Arg2849Pro)":[92],"novel":[95],"intronic":[96],"variant":[97,111],"intron":[99],"17":[100],"(c.2639-19_2639-7del13).":[101],"Reverse-transcription":[102],"PCR":[103],"sequencing":[105],"that":[108,116,140],"c.2639-19_2639-7del13":[110],"causes":[112],"splicing":[114],"aberration":[115],"potentiates":[117],"skipping":[118],"exon":[119],"18.":[120],"Because":[121],"quite":[124],"Korea,":[127],"diagnosis":[129,142],"patients":[134,150],"can":[135],"delayed.":[137],"recommend":[139],"should":[145],"suspected":[147],"exhibiting":[151],"features":[154],"A-T.":[156]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}