Identification of ten novel mutations in patients with eIF2B-related disorders-Reference-Cited by-同舟云学术

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Identification of ten novel mutations in patients with eIF2B-related disorders

Published:2005-03-17 Issue:4 Volume:25 Page:411-411
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Ohlenbusch Andreas,Henneke Marco,Brockmann Knut,Goerg Maria,Hanefeld Folker,Kohlschütter Alfried,Gärtner Jutta

Funder

Research program, Faculty of Medicine, Georg August University, Göttingen (to M.H.); Hertiestiftung (to F.H.)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 37 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. Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants;Intractable & Rare Diseases Research;2022-08-31

2. In Memoriam: Folker Hanefeld, MD, PhD, June 28, 1937–May 9, 2022;Journal of Child Neurology;2022-08-08

3. Identification of a Novel Heterozygous Mutation in the EIF2B4 Gene Associated With Vanishing White Matter Disease;Frontiers in Bioengineering and Biotechnology;2022-07-04

4. Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients;Neurological Sciences;2022-04-07

5. Leukodystrophy Due to eIF2B Mutations in Adults;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;2021-09-02

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