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...

Descripción completa

Detalles Bibliográficos
Autores principales: Cao, Henian, Alston, Lindsay, Ruschman, Jennifer, Hegele, Robert A
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2276215/
https://www.ncbi.nlm.nih.gov/pubmed/18237401
http://dx.doi.org/10.1186/1476-511X-7-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2276215/
https://www.ncbi.nlm.nih.gov/pubmed/18237401
http://dx.doi.org/10.1186/1476-511X-7-3

Ejemplares similares