A Novel Semiquantitative Polymerase Chain Reaction/Enzyme Digestion-Based Method for Detection of Large Scale Deletions/Conversions of the CYP21 Gene and Mutation Screening in Turkish Families with 21-Hydroxylase Deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 12, 2003, Pages 5893-5897

  Tukel, T ^a,c   Uyguner, O ^a   Wei, J Q ^b   Yuksel Apak, M ^a   Saka, N ^a   Song, D X ^b   Kayserili, H ^a   Bas, F ^a   Gunoz, H ^a   Wilson, R C ^b   New, M I ^b   Wollnik, B ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HLA ANTIGEN; STEROID 21 MONOOXYGENASE;

ALLELE; ANALYTIC METHOD; ARTICLE; CHROMOSOME 6; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; EXON; GENE CLUSTER; GENE CONVERSION; GENE DELETION; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENETIC CONSERVATION; GENETIC SCREENING; HUMAN; INTERMETHOD COMPARISON; MAJOR HISTOCOMPATIBILITY COMPLEX; MISSENSE MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; QUANTITATIVE ANALYSIS; RECESSIVE INHERITANCE; SOUTHERN BLOTTING; STEROID 21 MONOOXYGENASE DEFICIENCY; TURKEY (REPUBLIC);

ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; BLOTTING, SOUTHERN; GENE CONVERSION; GENE DELETION; GENE FREQUENCY; HUMANS; MUTATION, MISSENSE; POINT MUTATION; POLYMERASE CHAIN REACTION; STEROID 21-HYDROXYLASE; TAQ POLYMERASE; TURKEY;

EID: 9144256791     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030813     Document Type: Article

References (18)

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