טוען...
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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| Main Authors: | , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2009
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| נושאים: | |
| גישה מקוונת: | 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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