Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 7, 2010, Pages 3497-3501

  Hughes, C R ^a   Chung, T T ^a   Habeb, A M ^b   Kelestimur, F ^c   Clark, A J L ^a   Metherell, L A ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b Maternity and Children Hospital   (Saudi Arabia)

^c ERCIYES UNIVERSITY MEDICAL FACULTY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; CYCLIC AMP; MELANOCORTIN 2 RECEPTOR; MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN; PREDNISOLONE; PROTEIN; UNCLASSIFIED DRUG; GLUCOCORTICOID; MEMBRANE PROTEIN; MRAP PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; CELL STRAIN HEK293; CEREBRAL PALSY; CHILD; CLINICAL FEATURE; DEPRESSION; DOSE RESPONSE; EXON; FAMILIAL GLUCOCORTICOID DEFICIENCY TYPE 2; FATIGUE; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; HOMOZYGOTE; HORMONE DEFICIENCY; HUMAN; HUMAN CELL; HYPOGLYCEMIA; IMMUNOCYTOCHEMISTRY; IN VITRO STUDY; MALE; MISSENSE MUTATION; MUTANT; ONSET AGE; PEDIGREE ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SIBLING; SIGNAL TRANSDUCTION; WEIGHT REDUCTION; WILD TYPE; ADRENAL DISEASE; CONFOCAL MICROSCOPY; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; PEDIGREE;

ADRENAL GLAND DISEASES; ADULT; CHILD; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GLUCOCORTICOIDS; HUMANS; MALE; MEMBRANE PROTEINS; MICROSCOPY, CONFOCAL; MUTATION, MISSENSE; PEDIGREE;

EID: 77954902077     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-2731     Document Type: Article

References (11)

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