Sequencing of the Reannotated LMNB2 Gene Reveals Novel Mutations in Patients with Acquired Partial Lipodystrophy

The etiology of acquired partial lipodystrophy (APL, also called “Barraquer-Simons syndrome”) is unknown. Genomic DNA mutations affecting the nuclear lamina protein lamin A cause inherited partial lipodystrophy but are not found in patients with APL. Because it also encodes a nuclear lamina protein...

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Hlavní autoři: Hegele, Robert A., Cao, Henian, Liu, Dora M., Costain, Gary A., Charlton-Menys, Valentine, Rodger, N. Wilson, Durrington, Paul N.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2006
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1559499/
https://ncbi.nlm.nih.gov/pubmed/16826530
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