Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations

European Journal of Endocrinology

Volumn 160, Issue 4, 2009, Pages 705-710

  Chan, Li F ^b   Chung, Teng Teng ^b   Massoud, Ahmed F ^a   Metherell, Louise A ^b   Clark, Adrian J L ^b  

^a NORTHWICK PARK HOSPITAL   (United Kingdom)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINE; ALDOSTERONE; ANTIBIOTIC AGENT; HYDROCORTISONE; MELANOCORTIN 2 RECEPTOR; RENIN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; TYROSINE; CELL SURFACE RECEPTOR; CORTICOTROPIN; GLUCOCORTICOID RECEPTOR;

ADRENAL INSUFFICIENCY; ALDOSTERONE BLOOD LEVEL; APNEA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRADYCARDIA; CASE REPORT; CELL ASSAY; CELL SURFACE; CHILD; COLLAPSE; COUGHING; CYANOSIS; DYSPNEA; FLUORESCENCE; GENE MUTATION; GENETIC ANALYSIS; GLUCOCORTICOSTEROID DEFICIENCY; HUMAN; HUMAN CELL; HYDROCORTISONE BLOOD LEVEL; HYPOGLYCEMIA; HYPOTENSION; IMMUNOPRECIPITATION; IN VITRO STUDY; MALE; MISSENSE MUTATION; PERCEPTION DEAFNESS; PLASMA RENIN ACTIVITY; PNEUMONIA; PRIORITY JOURNAL; QUADRIPLEGIA; SEPSIS; VISUAL IMPAIRMENT; ALLELE; ANIMAL; CELL LINE; CHO CELL; CONFOCAL MICROSCOPY; CRICETULUS; GENETICS; HAMSTER; METABOLISM; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; PROTEIN FOLDING; WESTERN BLOTTING;

ADRENOCORTICOTROPIC HORMONE; ALLELES; ANIMALS; BLOTTING, WESTERN; CELL LINE; CHO CELLS; CRICETINAE; CRICETULUS; DNA MUTATIONAL ANALYSIS; HUMANS; IMMUNOPRECIPITATION; INFANT, NEWBORN; MICROSCOPY, CONFOCAL; MUTATION; PROTEIN FOLDING; RECEPTOR, MELANOCORTIN, TYPE 2; RECEPTORS, CELL SURFACE; RECEPTORS, GLUCOCORTICOID;

EID: 64549123966     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-08-0636     Document Type: Article

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