Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR)

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 7, 2010, Pages 3352-3359

  Sahakitrungruang, Taninee ^a,b   Soccio, Raymond E ^c   Lang Muritano, Mariarosaria ^d   Walker, Joanna M ^e   Achermann, John C ^f   Miller, Walter L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CHULALONGKORN UNIVERSITY   (Thailand)

^c HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e PORTSMOUTH HOSPITALS NHS TRUST   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARTIC ACID; CHOLESTEROL; CYSTEINE; FLUDROCORTISONE; GLUCOCORTICOID; GLYCINE; HYDROCORTISONE; LEUCINE; MINERALOCORTICOID; PHENYLALANINE; PREDNISONE; PREGNENOLONE; PROLINE; PROTEIN; SERINE; STEROIDOGENIC ACUTE REGULATORY PROTEIN; TESTOSTERONE; PHOSPHOPROTEIN;

ADOLESCENT; ADRENAL CORTEX INSUFFICIENCY; ADRENAL INSUFFICIENCY; ADULT; ARTICLE; BACTERIUM; BINDING AFFINITY; BIRTH; CASE REPORT; CELL ISOLATION; CELL LINE; CHILD; CHOLESTEROL SIDE CHAIN CLEAVAGE; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; DNA SEQUENCE; FEMALE; GENE EXPRESSION; GENE EXPRESSION SYSTEM; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC TRANSFECTION; GENITAL MALFORMATION; HORMONE SYNTHESIS; HUMAN; HYPOGONADISM; HYPOSPADIAS; INFANT; INSULIN TOLERANCE TEST; KARYOTYPE 46,XY; LABORATORY TEST; LOSS OF FUNCTION MUTATION; MALE; MICROPENIS; MISSENSE MUTATION; MITOCHONDRION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ORCHIDOPEXY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PURIFICATION; PROTEIN STRUCTURE; STEROIDOGENESIS; SYMPTOM; WILD TYPE; GENETIC ASSOCIATION; GENETICS; METABOLISM; MUTATION;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADRENAL INSUFFICIENCY; ADULT; CHILD, PRESCHOOL; CHOLESTEROL; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MITOCHONDRIA; MUTATION; PHENOTYPE; PHOSPHOPROTEINS;

EID: 77954924313     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-0437     Document Type: Article

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