A novel <i>UBAP1</i> truncated variant in a Chinese family with hereditary spastic paraplegia-Reference-Cited by-同舟云学术

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A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia

Published:2022-03-29 Issue:5 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Wei Qiao¹²,Wang Pei‐Shan¹²,Dong Hai‐Lin¹²,Luo Wen‐Jiao¹²,Wu Zhi‐Ying¹²^ORCID,Li Hong‐Fu¹²^ORCID

Affiliation:

1. Department of Neurology and Research Center of Neurology Second Affiliated Hospital, Zhejiang University School of Medicine Hangzhou China

2. Key Laboratory of Medical Neurobiology of Zhejiang Province Second Affiliated Hospital, Zhejiang University School of Medicine Hangzhou China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1927

Reference8 articles.

1. Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia

2. Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

3. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

4. Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia

5. Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia

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