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Collagen Expression in Fibroblasts with a Novel LMNA Mutation

Laminopathies are a group of genetic disorders caused by LMNA mutations; they include muscular dystrophies, lipodystrophies and progeroid syndromes. We identified a novel heterozygous LMNA mutation, L59R, in a patient with the general appearance of mandibuloacral dysplasia and progeroid features. Ex...

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Bibliografski detalji
Glavni autori: Nguyen, Desiree, Leistritz, Dru F., Turner, Lesley, MacGregor, David, Ohson, Kamal, Dancey, Paul, Martin, George M., Oshima, Junko
Format: Artigo
Jezik:Inglês
Izdano: 2006
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867458/
https://ncbi.nlm.nih.gov/pubmed/17150192
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2006.11.070
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