Genotype-phenotype analysis of LMNA-related diseases predicts phenotype-selective alterations in lamin phosphorylation

Laminopathies are rare diseases associated with mutations in LMNA, which encodes nuclear lamin A/C. LMNA variants lead to diverse tissue-specific phenotypes including cardiomyopathy, lipodystrophy, myopathy, neuropathy, progeria, bone/skin disorders, and overlap syndromes. The mechanisms underlying...

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Detaylı Bibliyografya
Yayımlandı:FASEB J
Asıl Yazarlar: Lin, Eric W, Brady, Graham F, Kwan, Raymond, Nesvizhskii, Alexey I, Omary, M Bishr
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2020
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8059629/
https://ncbi.nlm.nih.gov/pubmed/32413188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.202000500R
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