Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy

Perilipin is the most abundant adipocyte-specific protein that coats lipid droplets, and it is required for optimal lipid incorporation and release from the droplet. We identified two heterozygous frameshift mutations in the perilipin gene (PLIN1) in three families with partial lipodystrophy, severe...

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Auteurs principaux: Gandotra, Sheetal, Le Dour, Caroline, Bottomley, William, Cervera, Pascale, Giral, Philippe, Reznik, Yves, Charpentier, Guillaume, Auclair, Martine, Delépine, Marc, Barroso, Inês, Semple, Robert K., Lathrop, Mark, Lascols, Olivier, Capeau, Jacqueline, O’Rahilly, Stephen, Magré, Jocelyne, Savage, David B., Vigouroux, Corinne
Format: Artigo
Langue:Inglês
Publié: 2011
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3773916/
https://ncbi.nlm.nih.gov/pubmed/21345103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1007487
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