Exon Skipping Caused by Noncanonical Splicing Mutation in <i><scp>PRDX3</scp></i>‐Related Spinocerebellar Ataxia-Reference-Cited by-同舟云学术

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Exon Skipping Caused by Noncanonical Splicing Mutation in PRDX3‐Related Spinocerebellar Ataxia

Published:2023-08-08 Issue:10 Volume:38 Page:1968-1970
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Wang Guangyu¹^ORCID,Wang Bin¹,Qin Qingtao¹,Yan Chuanzhu¹^ORCID,Zhao Yuying¹,Lin Pengfei¹

Affiliation:

1. Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases Qilu Hospital of Shandong University Jinan China

Funder

National Natural Science Foundation of China

Natural Science Foundation of Shandong Province

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference7 articles.

1. Hereditary ataxias: overview

2. Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia

3. Peroxiredoxin III, a Mitochondrion-specific Peroxidase, Regulates Apoptotic Signaling by Mitochondria

4. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

5. UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

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