A novel homozygous nonsense mutations E135* in the type II 3beta-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia. Mutations in brief no. 168. Online.

Human mutation

Volumn 12, Issue 2, 1998, Pages 139-

  Marui, S ^a   Torrealba, I M ^a   Russell, A J ^a   Latronico, A C ^a   Sutcliffe, R G ^a   Mendonca, B B ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; GLUTAMIC ACID; INORGANIC SALT;

ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GENETICS; HOMOZYGOTE; HUMAN; METABOLISM; MISSENSE MUTATION; NEWBORN;

3-HYDROXYSTEROID DEHYDROGENASES; ADRENAL HYPERPLASIA, CONGENITAL; FEMALE; GLUTAMIC ACID; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MUTATION, MISSENSE; SALTS;

MLCS; MLOWN;

EID: 0032222765     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1998)12:2<139::aid-humu19>3.3.co;2-w     Document Type: Article

References (0)