A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 7, 1997, Pages 2337-2342

  Okuyama, Eisaku ^a   Nishi, Nozomu ^a   Onishi, Shoju ^a   Itoh, Susumu ^a   Ishii, Yoshiro ^a   Miyanaka, Hiroshi ^a   Fujita, Keinosuke ^b   Ichikawa, Yoshiyuki ^a  

^a KAGAWA UNIVERSITY   (Japan)

^b OSAKA CITY GENERAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENAL HYPERPLASIA; ARTICLE; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HORMONAL REGULATION; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REGULATORY MECHANISM; STEROIDOGENESIS;

ADRENAL HYPERPLASIA, CONGENITAL; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLOTTING, NORTHERN; BLOTTING, SOUTHERN; COS CELLS; FEMALE; HUMANS; INFANT; MEMBRANE PROTEINS; MUTATION; PHOSPHOPROTEINS; POLYMERASE CHAIN REACTION; TRANSFECTION;

EID: 0030743449     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.7.2337     Document Type: Article

References (48)

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