A frameshift mutation in human MC4R is associated with a dominant form of obesity.
Vaisse
C
C
Clement
K
K
Guy-Grand
B
B
Froguel
P
P
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D020738:Leptin; D008969:Molecular Sequence Data; D009765:Obesity / Q000097:blood / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000378:metabolism; D044105:Receptor, Melanocortin, Type 4; D018043:Receptors, Corticotropin / Q000235:genetics*
D020738:Leptin; D011506:Proteins; D044105:Receptor, Melanocortin, Type 4; D018043:Receptors, Corticotropin