Detection of the missense mutation A218V in the steroidogenic acute regulatory protein gene of a Japanese patient with congenital lipoid adrenal hyperplasia

Clinical Pediatric Endocrinology

Volumn 6, Issue 1, 1997, Pages 33-37

  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

Congenital lipoid adrenal hyperplasia; Missense mutation; Nonsense mutation; Steroidogenic acute regulatory protein gene

Indexed keywords

REGULATOR PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CODON; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DNA SEQUENCE; GENE FUNCTION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN CELL; MISSENSE MUTATION; NEWBORN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; STEROIDOGENESIS; STOP CODON;

EID: 0031402462     PISSN: 09185739     EISSN: None     Source Type: Journal    
DOI: 10.1297/cpe.6.33     Document Type: Article

References (18)