A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. Online.

Human mutation

Volumn 11, Issue 4, 1998, Pages 331-

  Katsumata, N ^a   Tanae, A ^a   Shinagawa, T ^a   Nagashima Miyokawa, A ^a   Shimizu, M ^a   Yasunaga, T ^a   Tanaka, T ^a   Hibi, I ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

LIPID; PHOSPHOPROTEIN; STEROIDOGENIC ACUTE REGULATORY PROTEIN;

ARTICLE; CASE REPORT; CODON; CONGENITAL ADRENAL HYPERPLASIA; FRAMESHIFT MUTATION; GENETIC POLYMORPHISM; GENETICS; HETEROZYGOTE; HUMAN; JAPAN;

ADRENAL HYPERPLASIA, CONGENITAL; CODON; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; JAPAN; LIPIDS; PHOSPHOPROTEINS; POLYMORPHISM, GENETIC;

MLCS; MLOWN;

EID: 0032242686     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1998)11:4<331::aid-humu12>3.0.co;2-3     Document Type: Article

References (0)