A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.

Human mutation

Volumn 13, Issue 6, 1999, Pages 505-

  Kapelari, K ^a   Ghanaati, Z ^a   Wollmann, H ^a   Ventz, M ^a   Ranke, M B ^a   Kofler, R ^a   Peters, H ^a  

^a UNIVERSITY OF INNSBRUCK   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GENE DELETION; GENETIC SCREENING; GENETICS; HUMAN; MALE; MISSENSE MUTATION; MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION;

ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; ALTERNATIVE SPLICING; FEMALE; GENE DELETION; GENETIC SCREENING; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; POINT MUTATION; POLYMERASE CHAIN REACTION; STEROID 21-HYDROXYLASE;

EID: 0032616170     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:6<505::AID-HUMU16>3.0.CO;2-0     Document Type: Article

References (0)