A frameshifting mutation in CHRNE unmasks skipping of the preceding exon-Reference-Cited by-同舟云学术

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A frameshifting mutation in CHRNE unmasks skipping of the preceding exon

Published:2003-09-30 Issue:23 Volume:12 Page:3055-3066
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Ohno K.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/12/23/3055/2035211/ddg334.pdf

Cited by 26 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. Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up;Biomedicines;2023-11-06

2. RNA Transcript Diversity in Neuromuscular Research;Journal of Neuromuscular Diseases;2023-07-04

3. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review;International Journal of Molecular Sciences;2023-02-13

4. Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings;Frontiers in Neurology;2022-06-02

5. Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports;Current Neuropharmacology;2021-04-29

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