Mutation Update forGNEGene Variants Associated with GNE Myopathy-Reference-Cited by-同舟云学术

Mutation Update forGNEGene Variants Associated with GNE Myopathy

Published:2014-07-17 Issue:8 Volume:35 Page:915-926
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Celeste Frank V.¹,Vilboux Thierry²,Ciccone Carla²,de Dios John Karl²,Malicdan May Christine V.²,Leoyklang Petcharat²,McKew John C.¹,Gahl William A.²³,Carrillo-Carrasco Nuria¹,Huizing Marjan²

Affiliation:

1. Therapeutics for Rare and Neglected Diseases, National Center for Advancing Translational Sciences; National Institutes of Health; Bethesda Maryland

2. Medical Genetics Branch, National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

3. Office of the Clinical Director, National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22583/fullpdf

Reference101 articles.

1. An integrated map of genetic variation from 1,092 human genomes;Abecasis;Nature,2012