Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: Evidence for a founder effect

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 10, 2009, Pages 3954-3958

  Kleinle, S ^b   Lang, R ^a   Fischer, G F ^a   Vierhapper, H ^a   Waldhauser, F ^a   Fodinger M ^c   Baumgartner Parzer, Sabina M ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b Diagnostik München   (Germany)

^c KAISER FRANZ JOSEF HOSPITAL   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

HLA B ANTIGEN; STEROID 21 MONOOXYGENASE;

3' UNTRANSLATED REGION; ARTICLE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CYP21A2 GENE; FOUNDER EFFECT; GENE; GENE DUPLICATION; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HAPLOTYPE; HLA TYPING; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTHERN BLOTTING;

EID: 70350011828     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0487     Document Type: Article

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