Cargando…

A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia

Detalles Bibliográficos
Autores principales: Chen, You, Cen, Zhidong, Zheng, Xiaosheng, Xie, Fei, Chen, Si, Luo, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Neurological Association 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444155/
https://www.ncbi.nlm.nih.gov/pubmed/30938113
http://dx.doi.org/10.3988/jcn.2019.15.2.271
_version_ 1783407974547456000
author Chen, You
Cen, Zhidong
Zheng, Xiaosheng
Xie, Fei
Chen, Si
Luo, Wei
author_facet Chen, You
Cen, Zhidong
Zheng, Xiaosheng
Xie, Fei
Chen, Si
Luo, Wei
author_sort Chen, You
collection PubMed
description
format Online
Article
Text
id pubmed-6444155
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Korean Neurological Association
record_format MEDLINE/PubMed
spelling pubmed-64441552019-04-03 A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia Chen, You Cen, Zhidong Zheng, Xiaosheng Xie, Fei Chen, Si Luo, Wei J Clin Neurol Letter to the Editor Korean Neurological Association 2019-04 2019-03-26 /pmc/articles/PMC6444155/ /pubmed/30938113 http://dx.doi.org/10.3988/jcn.2019.15.2.271 Text en Copyright © 2019 Korean Neurological Association http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Letter to the Editor
Chen, You
Cen, Zhidong
Zheng, Xiaosheng
Xie, Fei
Chen, Si
Luo, Wei
A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia
title A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia
title_full A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia
title_fullStr A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia
title_full_unstemmed A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia
title_short A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia
title_sort novel homozygous capn1 pathogenic variant in a chinese patient with pure hereditary spastic paraplegia
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444155/
https://www.ncbi.nlm.nih.gov/pubmed/30938113
http://dx.doi.org/10.3988/jcn.2019.15.2.271
work_keys_str_mv AT chenyou anovelhomozygouscapn1pathogenicvariantinachinesepatientwithpurehereditaryspasticparaplegia
AT cenzhidong anovelhomozygouscapn1pathogenicvariantinachinesepatientwithpurehereditaryspasticparaplegia
AT zhengxiaosheng anovelhomozygouscapn1pathogenicvariantinachinesepatientwithpurehereditaryspasticparaplegia
AT xiefei anovelhomozygouscapn1pathogenicvariantinachinesepatientwithpurehereditaryspasticparaplegia
AT chensi anovelhomozygouscapn1pathogenicvariantinachinesepatientwithpurehereditaryspasticparaplegia
AT luowei anovelhomozygouscapn1pathogenicvariantinachinesepatientwithpurehereditaryspasticparaplegia
AT chenyou novelhomozygouscapn1pathogenicvariantinachinesepatientwithpurehereditaryspasticparaplegia
AT cenzhidong novelhomozygouscapn1pathogenicvariantinachinesepatientwithpurehereditaryspasticparaplegia
AT zhengxiaosheng novelhomozygouscapn1pathogenicvariantinachinesepatientwithpurehereditaryspasticparaplegia
AT xiefei novelhomozygouscapn1pathogenicvariantinachinesepatientwithpurehereditaryspasticparaplegia
AT chensi novelhomozygouscapn1pathogenicvariantinachinesepatientwithpurehereditaryspasticparaplegia
AT luowei novelhomozygouscapn1pathogenicvariantinachinesepatientwithpurehereditaryspasticparaplegia