New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand.

Journal of medical genetics

Volumn 44, Issue 9, 2007, Pages

  Lüdtke, Angelika ^a   Buettner, Janine ^a   Schmidt, Hartmut H J ^a   Worman, Howard J ^a  

^a Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2,4 THIAZOLIDINEDIONE DERIVATIVE; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; ROSIGLITAZONE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIMAL; ARTICLE; CELL LINE; CHEMISTRY; DRUG EFFECT; DRUG POTENTIATION; FEMALE; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENETICS; HUMAN; LIPODYSTROPHY; METABOLIC SYNDROME X; MISSENSE MUTATION; PEDIGREE; POINT MUTATION; PROTEIN TERTIARY STRUCTURE; REPORTER GENE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIMALS; CELL LINE; FEMALE; GENES, REPORTER; HUMANS; LIPODYSTROPHY, FAMILIAL PARTIAL; METABOLIC SYNDROME X; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; PPAR GAMMA; PROTEIN STRUCTURE, TERTIARY; THIAZOLIDINEDIONES; TRANSCRIPTION, GENETIC; TRANSFECTION;

EID: 34948899858     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2007.050567     Document Type: Article

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