Mutational spectrum of the steroid 21-hydroxylase gene in Austria: Identification of a novel missense mutation

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 10, 2001, Pages 4771-4775

  Baumgartner Parzer, S M ^a   Schulze, E ^c   Waldhausl W ^a   Pauschenwein, S ^a   Rondot, S ^c   Nowotny, P ^a   Meyer, K ^c   Frisch, H ^b   Waldhauser, F ^b   Vierhapper, H ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b UNIVERSITY OF VIENNA   (Austria)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

ARTICLE; AUSTRIA; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATHOGENESIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; STEROID 21 MONOOXYGENASE DEFICIENCY;

EID: 17944367419     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.86.10.7898     Document Type: Article

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