Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot‑Marie‑Tooth type 2A-Reference-Cited by-同舟云学术

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Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot‑Marie‑Tooth type 2A

Published:2018-07-24 Issue: Volume: Page:
ISSN:1792-0981
Container-title:Experimental and Therapeutic Medicine
language:
Short-container-title:Exp Ther Med

Author:

You Yi¹,Wang Xiaodong²,Li Shan¹,Zhao Xiuli¹,Zhang Xue¹

Affiliation:

1. Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, P.R. China

2. Department of Paediatric Orthopaedics, The Children's Hospital of Soochow University, Suzhou, Jiangsu 215000, P.R. China

Publisher

Spandidos Publications

Subject

Cancer Research,Immunology and Microbiology (miscellaneous),General Medicine

Cited by 4 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. Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families;Molecular Genetics & Genomic Medicine;2022-03-09

2. Genetic Mutations and Major Human Disorders: A Review;Egyptian Journal of Chemistry;2021-10-05

3. Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta;Frontiers in Genetics;2019-10-18

4. Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth;INT J MOL CELL MED;2019

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