A Novel Splicing Junction Mutation in the Gene for the Steroidogenic Acute Regulatory Protein Causes Congenital Lipoid Adrenal Hyperplasia1

Author:

Okuyama Eisaku1,Nishi Nozomu2,Onishi Shoju3,Itoh Susumu3,Ishii Yoshiro3,Miyanaka Hiroshi4,Fujita Keinosuke5,Ichikawa Yoshiyuki1

Affiliation:

1. Departments of Biochemistry (E.O., Y.I.), Kita-gun, Kagawa 761–07;

2. Endocrinology (N.N.), Kagawa 761–07;

3. Pediatrics (S.O., S.I., Y.I.), Kita-gun, Kagawa 761–07;

4. Research Equipment Center (H.M.), Kagawa Medical University, Kita-gun, Kagawa 761–07;

5. the Department of Pediatrics, Osaka City General Hospital (K.F.), Toshima-ku, Osaka 534, Japan

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference48 articles.

1. Das Syndrom des Pseudohermaphroditismus masculinus bei kongenitaler Nebennierenrinden-Hyperplasie ohne Androgenüberproduktion (adrenaler Pseudohermaphroditismus musculinus).;Prader;Helv Paediatr Acta,1955

2. Molecular and clinical advances in congenital adrenal hyperplasia.;Miller;J Pediatr,1987

3. Topological studies of cytochromes P-450scc and P-45011b in bovine adrenocortical inner mitochondrial membranes.;Churchill;J Biol Chem,1979

4. Characterization of two cysteine residues in cytochrome P-450scc: chemical identification of the heme-binding cysteine residue.;Tsubaki;Biochim Biophys Acta,1986

5. Molecular aspects of hormone action in ovarian follicular development, ovulation, and luteinization.;Richards;Annu Rev Physiol,1988

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