A Homozygous Mutation of Prelamin-A Preventing Its...

Journal of Clinical Endocrinology & Metabolism 2011 / 05 Vol. 96; Iss. 5

A Homozygous Mutation of Prelamin-A Preventing Its Farnesylation and Maturation Leads to a Severe Lipodystrophic Phenotype: New Insights into the Pathogenicity of Nonfarnesylated Prelamin-A

Le Dour, Caroline, Schneebeli, Stéphane, Bakiri, Fawzi, Darcel, Françoise, Jacquemont, Marie-Line, Maubert, Marie-Anne, Auclair, Martine, Jeziorowska, Dorota, Reznik, Yves, Béréziat, Véronique, Capeau
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Volume:
96
Language:
english
Journal:
The Journal of Clinical Endocrinology & Metabolism
DOI:
10.1210/jc.2010-2234
Date:
May, 2011
File:
PDF, 489 KB
english, 2011
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