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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Hegele, Robert A., Cao, Henian, Liu, Dora M., Costain, Gary A., Charlton-Menys, Valentine, Rodger, N. Wilson, Durrington, Paul N.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: The American Society of Human Genetics 2006
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC1559499/
https://ncbi.nlm.nih.gov/pubmed/16826530
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