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Article

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

31 Jan 2008

Abstract excerpt

BACKGROUND: Mice with a deleted Cav1 gene encoding caveolin-1 develop adipocyte abnormalities and insulin resistance. From genomic DNA of patients with atypical lipodystrophy and hypertriglyceridemia who had no mutations in any known lipodystrophy gene, we used DNA sequence analysis to screen the coding regions of human CAV1 (MIM 601047). RESULTS: We found a heterozygous frameshift mutation in CAV1, designated...

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PMID: 18237401
DOI: 10.1186/1476-511x-7-3

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