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Differences in splicing defects between the grey and white matter in myotonic dystrophy type 1 patients.

Myotonic dystrophy type 1 (DM1) is a multi-system disorder caused by CTG repeats in the myotonic dystrophy protein kinase (DMPK) gene. This leads to the sequestration of splicing factors such as muscleblind-like 1/2 (MBNL1/2) and aberrant splicing in the central nervous system. We investigated the s...

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Detaylı Bibliyografya
Asıl Yazarlar: Masamitsu Nishi, Takashi Kimura, Masataka Igeta, Mitsuru Furuta, Koichi Suenaga, Tsuyoshi Matsumura, Harutoshi Fujimura, Kenji Jinnai, Hiroo Yoshikawa
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science (PLoS) 2020-01-01
Seri Bilgileri:PLoS ONE
Online Erişim:https://doi.org/10.1371/journal.pone.0224912
Etiketler: Etiketle
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