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

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 co...

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Détails bibliographiques
Auteurs principaux: Cao, Henian, Alston, Lindsay, Ruschman, Jennifer, Hegele, Robert A
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2008
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2276215/
https://ncbi.nlm.nih.gov/pubmed/18237401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1476-511X-7-3
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