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The E157D PPARγ mutation presents as an atypical case of familial partial lipodystrophy and diabetes in a human cohort and has a novel molecular mechanism. The mutation is located in the DNA-binding domain, has no dominant negative activity but disrupts transcription activation after the protein ha...
ORGANISM(S): Mus musculus 

This is a cohort of patients with extreme hypertriglyceridemia. Patients have been screened for loss of function mutations in LPL, GPIHBP1, APOC2, APOA5 and LMF1.

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