A Chinese SCA36 pedigree analysis of NOP56 expansion region based on long-read sequencing

Introduction: Spinocerebellar ataxias 36 (SCA36) is the neurodegenerative disease caused by the GGCCTG Hexanucleotide repeat expansions in NOP56, which is too long to sequence using short-read sequencing. Single molecule real time (SMRT) sequencing can sequence across disease-causing repeat expansio...

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Detalhes bibliográficos

Principais autores:	Jinlong Zou, Fengyu Wang, Zhenping Gong, Runrun Wang, Shuai Chen, Haohan Zhang, Ruihua Sun, Chenhao Gao, Wei Li, Junkui Shang, Jiewen Zhang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2023-03-01
coleção:	Frontiers in Genetics
Assuntos:	SMRT sequencing NOP56 gene GGCCTG spinocerebellar ataxia repeat interruptions
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1110307/full
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