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Human Molecular Genetics, Vol. 15, Iss. 4, 2006-02 ,pp. : 653-663

Oxford University Press

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Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy

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Oxford University Press

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Altered pre-lamin A processing is a common mechanism leading to lipodystrophy

By Capanni Cristina  

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Oxford University Press

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A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features

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Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome

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