A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 8, 2008, Pages 3097-3105

  Artigas, Rocío A ^a   Gonzalez, Angel ^b,c   Riquelme, Erick ^b   Carvajal, Cristian A ^a,b   Cattani, Andreína ^a   Martínez Aguayo, Alejandro ^a   Kalergis, Alexis M ^a,b   Pérez Acle, Tomas ^b,c   Fardella, Carlos E ^a,b  

^a PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^b PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^c Fundacion Ciencia para la Vida   (Chile)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CORTICOTROPIN; CORTICOTROPIN RECEPTOR; GUANINE NUCLEOTIDE BINDING PROTEIN; SERINE;

ADRENAL INSUFFICIENCY; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; FAMILY HISTORY; FRAME SHIFT MUTATION; GENE ACTIVITY; GENE INSERTION SEQUENCE; GENE MUTATION; GENE REARRANGEMENT; GENETIC TRANSFECTION; GLUCOCORTICOSTEROID DEFICIENCY; HETEROZYGOTE; HORMONE DEFICIENCY; HUMAN; HYDROGEN BOND; MALE; MOLECULAR DYNAMICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; STOP CODON; WILD TYPE;

EID: 49249130741     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-0048     Document Type: Article

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