A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

LMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. LMNA encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelope. We performed sequence analysis based on our original targeted gene panel system for...

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Библиографические подробности
Опубликовано в: :Hum Genome Var
Главные авторы: Ishiyama, Akihiko, Iida, Aritoshi, Hayashi, Shinichiro, Komaki, Hirofumi, Sasaki, Masayuki, Nonaka, Ikuya, Noguchi, Satoru, Nishino, Ichizo
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group UK 2018
Предметы:
Data Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6054619/
https://ncbi.nlm.nih.gov/pubmed/30083363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0018-6
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