A novel GJB1 mutation associated with X‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree-Reference-Cited by-同舟云学术

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A novel GJB1 mutation associated with X‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree

Published:2020-01-14 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Liu Yingdi¹^ORCID,Xue Jinjie¹²,Li Zhuo¹,Linpeng Siyuan¹,Tan Hu¹,Teng Yanling³,Liang Desheng¹,Wu Lingqian¹^ORCID

Affiliation:

1. Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics School of Life Sciences Central South University Changsha China

2. Children's Hospital of Shanxi Women Health Center of Shanxi Taiyuan China

3. Hunan Jiahui Genetics Hospital Changsha China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1127

Reference15 articles.

1. Gap junctions in inherited human disorders of the central nervous system

2. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene

3. Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

4. X-linked CMT: genes and gene loci in an Australian cohort

5. Mutations in the connexin 32 gene in X-linked dominant Charcot- Marie - Tooth disease (CMTX1)

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel splicing mutation in 5' UTR of GJB1 causes X‐linked Charcot—Marie–tooth disease;Molecular Genetics & Genomic Medicine;2022-11-17

2. Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report;Medicine;2022-11-11

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