Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by asymmetric muscle wasting and weakness. FSHD can be subdivided into two types: FSHD1, caused by contraction of the D4Z4 repeat on chromosome 4q35, and FSHD2, caused by mild contracti...

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Detalles Bibliográficos
Autores principales: Hiramuki, Yosuke, Kure, Yuriko, Saito, Yoshihiko, Ogawa, Megumu, Ishikawa, Keiko, Mori-Yoshimura, Madoka, Oya, Yasushi, Takahashi, Yuji, Kim, Dae-Seong, Arai, Noriko, Mori, Chiaki, Matsumura, Tsuyoshi, Hamano, Tadanori, Nakamura, Kenichiro, Ikezoe, Koji, Hayashi, Shinichiro, Goto, Yuichi, Noguchi, Satoru, Nishino, Ichizo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644496/
https://www.ncbi.nlm.nih.gov/pubmed/36348371
http://dx.doi.org/10.1186/s12967-022-03743-7

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