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

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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Bibliographic Details
Main Authors: Jinlong Zou, Fengyu Wang, Zhenping Gong, Runrun Wang, Shuai Chen, Haohan Zhang, Ruihua Sun, Chenhao Gao, Wei Li, Junkui Shang, Jiewen Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Genetics
Subjects:
SMRT sequencing
NOP56 gene
GGCCTG
spinocerebellar ataxia
repeat interruptions
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1110307/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1110307/full

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