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Overlapping syndrome with Familial Partial Lipodystrophy, Dunnigan variety and Cardiomyopathy due to Amino-terminal Heterozygous Missense lamin A/C Mutations

Familial partial lipodystrophy, Dunnigan variety (FPLD) is a well-recognized autosomal dominant disorder due to heterozygous missense mutations in lamin A/C (LMNA) gene. Most of the FPLD patients harbor mutations in the C-terminal of the lamin A/C and do not develop cardiomyopathy. On the other hand...

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Autori principali: Subramanyam, Lalitha, Simha, Vinaya, Garg, Abhimanyu
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3150739/
https://ncbi.nlm.nih.gov/pubmed/20041886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2009.01350.x
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