Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 4, 1996, Pages 1442-1448

  Naville, Danielle ^a   Barjhoux, Laure ^a   Jaillard, Christine ^a   Faury, Damien ^a   Despert, Francois ^b   Esteva, Blandine ^c   Durand, Philippe ^a   Saez, José M ^a   Bégeot, Martine ^a  

^a HÔPITAL DEBROUSSE   (France)

^b Centre de Pediatrie Clocheville   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; CORTICOTROPIN RECEPTOR;

ALLELE; ARTICLE; CASE REPORT; CORTICOTROPIN BLOOD LEVEL; CORTICOTROPIN DEFICIENCY; GENE MUTATION; GENETIC TRANSFECTION; HORMONE RECEPTOR INTERACTION; HORMONE RESPONSE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MOLECULAR CLONING; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADRENOCORTICOTROPIC HORMONE; AMINO ACID SEQUENCE; ANIMALS; ASPARTIC ACID; BASE SEQUENCE; CELL LINE; CHILD, PRESCHOOL; CHO CELLS; CRICETINAE; DNA; DNA PRIMERS; FEMALE; GENES, RECESSIVE; GLUCOCORTICOIDS; HOMOZYGOTE; HUMANS; HYDROCORTISONE; LYMPHOCYTES; MALE; MELANOMA, EXPERIMENTAL; MICE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN STRUCTURE, SECONDARY; RECEPTORS, CORTICOTROPIN; RECOMBINANT PROTEINS; SYNDROME; TRANSFECTION;

EID: 0029870664     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.4.1442     Document Type: Article

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