{"id":"https://openalex.org/W2012819681","doi":"https://doi.org/10.1210/mend.6.8.1406709","title":"R339H and P453S: CYP21 mutations associated with nonclassic steroid 21- hydroxylase deficiency that are not apparent gene conversions","display_name":"R339H and P453S: CYP21 mutations associated with nonclassic steroid 21- hydroxylase deficiency that are not apparent gene conversions","publication_year":1992,"publication_date":"1992-08-01","ids":{"openalex":"https://openalex.org/W2012819681","doi":"https://doi.org/10.1210/mend.6.8.1406709","mag":"2012819681","pmid":"https://pubmed.ncbi.nlm.nih.gov/1406709"},"language":"en","primary_location":{"id":"doi:10.1210/mend.6.8.1406709","doi":"https://doi.org/10.1210/mend.6.8.1406709","is_oa":false,"landing_page_url":"https://doi.org/10.1210/mend.6.8.1406709","pdf_url":null,"source":{"id":"https://openalex.org/S57449756","display_name":"Molecular Endocrinology","issn_l":"0888-8809","issn":["0888-8809","1944-9917"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-100"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Endocrinology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/mend/article-pdf/6/8/1318/10490551/mend1318.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5044503802","display_name":"Arno Helmberg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"A Helmberg","raw_affiliation_strings":["Department of Molecular Biology, University of Innsbruck Medical School, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, University of Innsbruck Medical School, Austria","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111830795","display_name":"M T Tusi\u00e9-Luna","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]},{"id":"https://openalex.org/I205783295","display_name":"Cornell University","ror":"https://ror.org/05bnh6r87","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295"]},{"id":"https://openalex.org/I2802090303","display_name":"Charles H. Revson Foundation","ror":"https://ror.org/02c9tf451","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2802090303"]}],"countries":["AT","US"],"is_corresponding":false,"raw_author_name":"M T Tusie-Luna","raw_affiliation_strings":["Department of Molecular Biology, University of Innsbruck Medical School, Austria","Charles H. Revson Foundation","Cornell University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, University of Innsbruck Medical School, Austria","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]},{"raw_affiliation_string":"Charles H. Revson Foundation","institution_ids":["https://openalex.org/I2802090303"]},{"raw_affiliation_string":"Cornell University","institution_ids":["https://openalex.org/I205783295"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087282223","display_name":"M. Tabarelli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"M Tabarelli","raw_affiliation_strings":["Department of Molecular Biology, University of Innsbruck Medical School, Austria","Innsbruck Medical University,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, University of Innsbruck Medical School, Austria","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]},{"raw_affiliation_string":"Innsbruck Medical University,","institution_ids":["https://openalex.org/I143397708"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111955884","display_name":"Reinhard Kofler","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"R Kofler","raw_affiliation_strings":["Department of Molecular Biology, University of Innsbruck Medical School, Austria","Innsbruck Medical University,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, University of Innsbruck Medical School, Austria","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]},{"raw_affiliation_string":"Innsbruck Medical University,","institution_ids":["https://openalex.org/I143397708"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5033634039","display_name":"Perrin C. White","orcid":"https://orcid.org/0000-0001-6262-0289","observed_orcids":["https://orcid.org/0000-0001-6262-0289"]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"P C White","raw_affiliation_strings":["Department of Molecular Biology, University of Innsbruck Medical School, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, University of Innsbruck Medical School, Austria","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":4.7631,"has_fulltext":true,"cited_by_count":125,"citation_normalized_percentile":{"value":0.95637047,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"6","issue":"8","first_page":"1318","last_page":"1322"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.9814000129699707,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11956","display_name":"Sexual Differentiation and Disorders","score":0.9814000129699707,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T12421","display_name":"Adrenal Hormones and Disorders","score":0.01759999990463257,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/21-hydroxylase-deficiency","display_name":"21-hydroxylase deficiency","score":0.9300000071525574},{"id":"https://openalex.org/keywords/non-classical-congenital-adrenal-hyperplasia","display_name":"non-classical congenital adrenal hyperplasia","score":0.8889999985694885},{"id":"https://openalex.org/keywords/cyp21-mutations","display_name":"CYP21 mutations","score":0.9539999961853027},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9409999847412109},{"id":"https://openalex.org/keywords/gene-conversion","display_name":"gene conversion","score":0.8939999938011169},{"id":"https://openalex.org/keywords/unequal-crossing-over","display_name":"unequal crossover","score":0.6510000228881836},{"id":"https://openalex.org/keywords/progesterone-metabolism","display_name":"progesterone metabolism","score":0.8629999756813049},{"id":"https://openalex.org/keywords/enzyme-activity","display_name":"enzyme activity","score":0.31299999356269836}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8709864616394043},{"id":"https://openalex.org/C2780321258","wikidata":"https://www.wikidata.org/wiki/Q21110736","display_name":"21-Hydroxylase","level":3,"score":0.7970598936080933},{"id":"https://openalex.org/C34957205","wikidata":"https://www.wikidata.org/wiki/Q277338","display_name":"Pseudogene","level":4,"score":0.7420845031738281},{"id":"https://openalex.org/C112212490","wikidata":"https://www.wikidata.org/wiki/Q471134","display_name":"Gene conversion","level":4,"score":0.7047946453094482},{"id":"https://openalex.org/C2777767042","wikidata":"https://www.wikidata.org/wiki/Q366868","display_name":"Congenital adrenal hyperplasia","level":2,"score":0.6829183101654053},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6418960094451904},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6404577493667603},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5994560718536377},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5900384187698364},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5746603012084961},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.47112250328063965},{"id":"https://openalex.org/C207009774","wikidata":"https://www.wikidata.org/wiki/Q420604","display_name":"Phenylalanine hydroxylase","level":4,"score":0.41964519023895264},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.0},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.0},{"id":"https://openalex.org/C2777431362","wikidata":"https://www.wikidata.org/wiki/Q170545","display_name":"Phenylalanine","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000312","descriptor_name":"Adrenal Hyperplasia, Congenital","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D003001","descriptor_name":"Cloning, Molecular","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":"D005785","descriptor_name":"Gene Conversion","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":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011994","descriptor_name":"Recombinant Proteins","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D013255","descriptor_name":"Steroid 21-Hydroxylase","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D013255","descriptor_name":"Steroid 21-Hydroxylase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016297","descriptor_name":"Mutagenesis, Site-Directed","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017386","descriptor_name":"Sequence Homology, Amino Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1210/mend.6.8.1406709","doi":"https://doi.org/10.1210/mend.6.8.1406709","is_oa":false,"landing_page_url":"https://doi.org/10.1210/mend.6.8.1406709","pdf_url":null,"source":{"id":"https://openalex.org/S57449756","display_name":"Molecular Endocrinology","issn_l":"0888-8809","issn":["0888-8809","1944-9917"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-100"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Endocrinology","raw_type":"journal-article"},{"id":"doi:10.1210/me.6.8.1318","doi":"https://doi.org/10.1210/me.6.8.1318","is_oa":true,"landing_page_url":"https://doi.org/10.1210/me.6.8.1318","pdf_url":"https://academic.oup.com/mend/article-pdf/6/8/1318/10490551/mend1318.pdf","source":{"id":"https://openalex.org/S57449756","display_name":"Molecular Endocrinology","issn_l":"0888-8809","issn":["0888-8809","1944-9917"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-100"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Endocrinology","raw_type":"journal-article"},{"id":"pmid:1406709","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1406709","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 endocrinology (Baltimore, Md.)","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1210/me.6.8.1318","doi":"https://doi.org/10.1210/me.6.8.1318","is_oa":true,"landing_page_url":"https://doi.org/10.1210/me.6.8.1318","pdf_url":"https://academic.oup.com/mend/article-pdf/6/8/1318/10490551/mend1318.pdf","source":{"id":"https://openalex.org/S57449756","display_name":"Molecular Endocrinology","issn_l":"0888-8809","issn":["0888-8809","1944-9917"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-100"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Endocrinology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1316507891","display_name":null,"funder_award_id":"DK-37867","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G3017589361","display_name":null,"funder_award_id":"HD 00072","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G6777264179","display_name":null,"funder_award_id":"10021","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320306489","display_name":"Charles H. Revson Foundation","ror":"https://ror.org/02c9tf451"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2012819681.pdf","grobid_xml":"https://content.openalex.org/works/W2012819681.grobid-xml"},"referenced_works_count":12,"referenced_works":["https://openalex.org/W1503945025","https://openalex.org/W1563095952","https://openalex.org/W1568019658","https://openalex.org/W1738719620","https://openalex.org/W1963680434","https://openalex.org/W1964331183","https://openalex.org/W2035615072","https://openalex.org/W2045270018","https://openalex.org/W2045823893","https://openalex.org/W2059708085","https://openalex.org/W2092323494","https://openalex.org/W2120594372"],"related_works":["https://openalex.org/W2008019641","https://openalex.org/W2015197852","https://openalex.org/W2413359249","https://openalex.org/W2039080398","https://openalex.org/W2120594372","https://openalex.org/W2049386323","https://openalex.org/W2065606880","https://openalex.org/W2398152171","https://openalex.org/W1986580467","https://openalex.org/W2047207178"],"abstract_inverted_index":{"Steroid":[0],"21-hydroxylase":[1,96,192],"deficiency":[2,193],"is":[3,196],"the":[4,34,37,42,91,161,164,174,198],"most":[5],"common":[6],"enzymatic":[7],"defect":[8],"causing":[9],"congenital":[10],"adrenal":[11],"hyperplasia,":[12],"an":[13,201],"inherited":[14],"disorder":[15,27],"of":[16,60,76,95,127,138,163,171,181,185,200],"cortisol":[17],"biosynthesis.":[18],"All":[19],"mutations":[20,140,187],"thus":[21],"far":[22],"characterized":[23],"that":[24,102,116,195],"cause":[25],"this":[26,117],"appear":[28],"to":[29,65,166,169,176,179],"result":[30,199],"from":[31,63,87],"recombinations":[32],"between":[33],"gene":[35,70,105,203],"encoding":[36],"enzyme,":[38],"CYP21B":[39],"(CYP21),":[40],"and":[41,124,173],"adjacent":[43],"pseudogene,":[44],"CYP21A":[45,64,134],"(CYP21P).":[46],"These":[47],"are":[48],"either":[49],"deletions":[50],"caused":[51],"by":[52,108],"unequal":[53],"crossing-over":[54],"during":[55],"meiosis":[56],"or":[57,135],"apparent":[58,202],"transfers":[59],"deleterious":[61],"sequences":[62],"CYP21B,":[66],"a":[67,73,82,88,154,189],"phenomenon":[68],"termed":[69],"conversion.":[71,204],"However,":[72],"small":[74],"percentage":[75],"alleles":[77],"do":[78],"not":[79,197],"carry":[80],"such":[81],"mutation.":[83],"We":[84],"analyzed":[85],"DNA":[86],"patient":[89],"with":[90,110],"mild,":[92],"nonclassic":[93,191],"form":[94],"deficiency,":[97],"who":[98],"carried":[99,119],"one":[100],"allele":[101,118,194],"had":[103],"no":[104],"conversions":[106],"detectable":[107],"hybridization":[109],"oligonucleotide":[111],"probes.":[112],"Sequence":[113],"analysis":[114],"revealed":[115],"two":[120],"missense":[121],"mutations,":[122],"R339H":[123],"P453S,":[125],"neither":[126],"which":[128,146],"has":[129],"been":[130],"previously":[131],"observed":[132],"in":[133,150],"CYP21B.":[136],"Each":[137,158],"these":[139,186],"was":[141,147],"introduced":[142],"into":[143],"CYP21":[144],"cDNA":[145],"then":[148],"expressed":[149],"COS1":[151],"cells":[152],"using":[153],"vaccinia":[155],"virus":[156],"system.":[157],"mutation":[159],"reduced":[160],"ability":[162,175],"enzyme":[165],"21-hydroxylate":[167],"17-hydroxyprogesterone":[168],"50%":[170],"normal":[172],"metabolize":[177],"progesterone":[178],"20%":[180],"normal.":[182],"Thus,":[183],"each":[184],"represents":[188],"potential":[190]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}
