{"id":"https://openalex.org/W1560463552","doi":null,"title":"A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.","display_name":"A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.","publication_year":2009,"publication_date":"2009-12-03","ids":{"openalex":"https://openalex.org/W1560463552","mag":"1560463552","pmid":"https://pubmed.ncbi.nlm.nih.gov/19960070","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2787306"},"language":"en","primary_location":{"id":"pmh:oai:europepmc.org:1894891","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2787306","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2787306","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5020527607","display_name":"Maleeha Azam","orcid":"https://orcid.org/0000-0003-0170-3325","observed_orcids":["https://orcid.org/0000-0003-0170-3325"]},"institutions":[{"id":"https://openalex.org/I16076960","display_name":"COMSATS University Islamabad","ror":"https://ror.org/00nqqvk19","country_code":"PK","type":"education","lineage":["https://openalex.org/I16076960"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Maleeha Azam","raw_affiliation_strings":["Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan","institution_ids":["https://openalex.org/I16076960"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030560740","display_name":"Muhammad Imran Khan","orcid":"https://orcid.org/0000-0003-0276-5480","observed_orcids":["https://orcid.org/0000-0003-0276-5480"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Muhammad Imran Khan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067293009","display_name":"Andreas Gal","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Andreas Gal","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102991981","display_name":"Alamdar Hussain","orcid":"https://orcid.org/0000-0003-4888-7280","observed_orcids":["https://orcid.org/0000-0003-4888-7280"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alamdar Hussain","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017058268","display_name":"Syed Tahir Abbas Shah","orcid":"https://orcid.org/0000-0001-9151-9374","observed_orcids":["https://orcid.org/0000-0001-9151-9374"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Syed Tahir Abbas Shah","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065338641","display_name":"Muhammad Shakil Khan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Muhammad Shakil Khan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030775177","display_name":"Ahmed Sadeque","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ahmed Sadeque","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083459554","display_name":"Habib Bokhari","orcid":"https://orcid.org/0000-0002-2171-6062","observed_orcids":["https://orcid.org/0000-0002-2171-6062"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Habib Bokhari","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056877021","display_name":"Rob W.J. Collin","orcid":"https://orcid.org/0000-0003-4347-6503","observed_orcids":["https://orcid.org/0000-0003-4347-6503"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rob W J Collin","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039737470","display_name":"Ulrike Orth","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ulrike Orth","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082322177","display_name":"Maria Michielde van Genderen","orcid":"https://orcid.org/0000-0002-9286-8397","observed_orcids":["https://orcid.org/0000-0002-9286-8397"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Maria M van Genderen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049656883","display_name":"Anneke I. den Hollander","orcid":"https://orcid.org/0000-0003-0634-5408","observed_orcids":["https://orcid.org/0000-0003-0634-5408"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A I den Hollander","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078101996","display_name":"Frans P.M. Cremers","orcid":"https://orcid.org/0000-0002-4954-5592","observed_orcids":["https://orcid.org/0000-0002-4954-5592"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Frans P M Cremers","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5015188618","display_name":"Raheel Qamar","orcid":"https://orcid.org/0000-0002-1158-6698","observed_orcids":["https://orcid.org/0000-0002-1158-6698"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Raheel Qamar","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.9197,"has_fulltext":true,"cited_by_count":24,"citation_normalized_percentile":{"value":0.83697601,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"15","issue":null,"first_page":"2526","last_page":"34"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":9.999999747378752e-05,"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"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/autosomal-recessive-retinitis-pigmentosa","display_name":"autosomal recessive retinitis pigmentosa","score":1.0},{"id":"https://openalex.org/keywords/rho-gene","display_name":"RHO gene","score":0.8199999928474426},{"id":"https://openalex.org/keywords/rhodopsin","display_name":"rhodopsin","score":0.9940000176429749},{"id":"https://openalex.org/keywords/homozygosity-mapping","display_name":"homozygosity mapping","score":0.7760000228881836},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.8659999966621399},{"id":"https://openalex.org/keywords/pakistani-families","display_name":"Pakistani families","score":0.9160000085830688},{"id":"https://openalex.org/keywords/common-descent","display_name":"common ancestry","score":0.5789999961853027}],"concepts":[{"id":"https://openalex.org/C130895681","wikidata":"https://www.wikidata.org/wiki/Q5282122","display_name":"Disease gene identification","level":5,"score":0.8496775031089783},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.8419187068939209},{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.7554888725280762},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.7391440868377686},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6750031113624573},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.6122851967811584},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.5792518854141235},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.5178342461585999},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4849105477333069},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4534109830856323},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.41717594861984253},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.3974374532699585},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.26595234870910645},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.16346096992492676}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005190","descriptor_name":"Family","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":"D005654","descriptor_name":"Fundus Oculi","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010154","descriptor_name":"Pakistan","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":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012243","descriptor_name":"Rhodopsin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012243","descriptor_name":"Rhodopsin","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D016009","descriptor_name":"Chi-Square Distribution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017421","descriptor_name":"Sequence Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018895","descriptor_name":"Microsatellite Repeats","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":6,"locations":[{"id":"pmh:oai:europepmc.org:1894891","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2787306","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:2787306","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2787306","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Vis","raw_type":"Text"},{"id":"pmid:19960070","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19960070","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":"Molecular vision","raw_type":"Journal Article"},{"id":"pmh:oai:repository.ubn.ru.nl:2066/81313","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/2066/81313","pdf_url":"http://hdl.handle.net/2066/81313","source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article / Letter to editor"},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/81313","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/2066/81313","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Molecular Vision, 15, 2526 - 34","raw_type":"info:eu-repo/semantics/article"},{"id":"mag:1560463552","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19960070","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:europepmc.org:1894891","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2787306","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1560463552.pdf","grobid_xml":"https://content.openalex.org/works/W1560463552.grobid-xml"},"referenced_works_count":26,"referenced_works":["https://openalex.org/W77228969","https://openalex.org/W153582504","https://openalex.org/W281225848","https://openalex.org/W600022398","https://openalex.org/W1489169434","https://openalex.org/W1979030108","https://openalex.org/W1994710504","https://openalex.org/W2012582259","https://openalex.org/W2025768188","https://openalex.org/W2036575757","https://openalex.org/W2040144887","https://openalex.org/W2041985272","https://openalex.org/W2042229468","https://openalex.org/W2048505879","https://openalex.org/W2059889755","https://openalex.org/W2064319275","https://openalex.org/W2077000316","https://openalex.org/W2107935245","https://openalex.org/W2123180599","https://openalex.org/W2130551481","https://openalex.org/W2137588110","https://openalex.org/W2139298839","https://openalex.org/W2142797206","https://openalex.org/W2143409306","https://openalex.org/W2260626574","https://openalex.org/W2462213351"],"related_works":["https://openalex.org/W2162476911","https://openalex.org/W2586286542","https://openalex.org/W2142813221","https://openalex.org/W1968646671","https://openalex.org/W2428028955","https://openalex.org/W2186130742","https://openalex.org/W2153806919","https://openalex.org/W2378384462","https://openalex.org/W2069708962","https://openalex.org/W1531151272"],"abstract_inverted_index":{"PURPOSE:":[0],"To":[1],"identify":[2],"the":[3,56,70,90,104,135,149,158,167,174,181],"gene":[4,71,78],"mutations":[5],"responsible":[6],"for":[7],"autosomal":[8],"recessive":[9],"retinitis":[10],"pigmentosa":[11],"(arRP)":[12],"in":[13,26,103,114,124,134,148,157],"Pakistani":[14,142,176],"families.":[15,137],"METHODS:":[16],"A":[17],"cohort":[18],"of":[19,55,85,95],"consanguineous":[20,141],"families":[21,143,177],"with":[22,144],"typical":[23,145],"RP":[24],"phenotype":[25,147],"patients":[27],"was":[28,50,111],"screened":[29],"by":[30,52],"homozygosity":[31,66],"mapping":[32,67],"using":[33],"microsatellite":[34],"markers":[35],"that":[36,166],"mapped":[37],"close":[38],"to":[39,186],"21":[40],"known":[41],"arRP":[42,46,118,146],"genes":[43],"and":[44,64,127,173],"five":[45],"loci.":[47],"Mutation":[48],"analysis":[49,123,164],"performed":[51],"direct":[53,93],"sequencing":[54,94],"candidate":[57,76],"gene.":[58,160],"RESULTS:":[59],"In":[60,82,139],"two":[61,91,140,175],"families,":[62,92],"RP21":[63],"RP53,":[65,126],"suggested":[68],"RHO,":[69],"encoding":[72],"rhodopsin,":[73],"as":[74],"a":[75,98,130,153,187],"disease":[77],"on":[79],"chromosome":[80],"3q21.":[81],"six":[83],"out":[84],"seven":[86],"affected":[87],"members":[88],"from":[89],"RHO":[96,159,182],"identified":[97,152],"homozygous":[99],"c.448G>A":[100],"mutation":[101,155,184],"resulting":[102],"p.Glu150Lys":[105,183],"amino":[106],"acid":[107],"change.":[108],"This":[109],"variant":[110],"first":[112],"reported":[113,169],"PMK197,":[115],"an":[116],"Indian":[117,170],"family.":[119],"Single":[120,161],"nucleotide":[121,162],"polymorphism":[122,163],"RP21,":[125],"PMK197":[128],"showed":[129],"common":[131,188],"disease-associated":[132],"haplotype":[133],"three":[136],"CONCLUSIONS:":[138],"patients,":[150],"we":[151],"disease-causing":[154],"(p.Glu150Lys)":[156],"suggests":[165],"previously":[168],"family":[171],"(PMK197)":[172],"studied":[178],"here":[179],"share":[180],"due":[185],"ancestry.":[189]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
