Concepedia

Publication | Closed Access

Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

DOI

386

Citations

20

References

2008

Year

Chong Ae Kim, Marc Délepine, Emilie Boutet, Haquima El Mourabit, Soazig Le Lay, Muriel Meier, Mona Nemani, E. Bridel, Claudia C. Leite, Débora Romeo Bertola,
The Journal of Clinical Endocrinology & Metabolism

Abstract

These findings identify CAV1 as a new BSCL-related gene and support a critical role for caveolins in human adipocyte function.

References

YearCitations

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