A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity

Endocrine

Volumn 36, Issue 1, 2009, Pages 52-59

  Roth, Christian L ^a   Ludwig, Michael ^b   Woelfle, Joachim ^b   Fan, Zhen Chuan ^c   Brumm, Harald ^d   Biebermann, Heike ^d   Tao, Ya Xiong ^c  

^a SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF BONN   (Germany)

^c AUBURN UNIVERSITY   (United States)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Childhood obesity; Decreased cell surface expression; Energy homeostasis; Loss of function mutation; Melanocortin 4 receptor gene mutation

Indexed keywords

MC4R PROTEIN, HUMAN; MELANOCORTIN 4 RECEPTOR;

ADOLESCENT; ARTICLE; CHILD; ENERGY METABOLISM; FAMILY HEALTH; FEMALE; GENETICS; HETEROZYGOTE; HOSPITALIZATION; HUMAN; HYPERINSULINISM; MALE; METABOLISM; OBESITY; ONSET AGE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; AGE OF ONSET; CHILD; ENERGY METABOLISM; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; HYPERINSULINISM; MALE; OBESITY; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTOR, MELANOCORTIN, TYPE 4; SEVERITY OF ILLNESS INDEX;

EID: 70349561248     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1007/s12020-009-9156-4     Document Type: Article

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