Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases-Reference-Cited by-同舟云学术

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Published:2011-10-13 Issue:10 Volume:7 Page:e1002325
ISSN:1553-7404
Container-title:PLoS Genetics
language:en
Short-container-title:PLoS Genet

Author:

Pierson Tyler Mark,Adams David,Bonn Florian,Martinelli Paola,Cherukuri Praveen F.,Teer Jamie K.,Hansen Nancy F.,Cruz Pedro,Mullikin for the NISC Comparative Sequencing Program James C.,Blakesley Robert W.,Golas Gretchen,Kwan Justin,Sandler Anthony,Fuentes Fajardo Karin,Markello Thomas,Tifft Cynthia,Blackstone Craig,Rugarli Elena I.,Langer Thomas,Gahl William A.,Toro Camilo

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics (clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference33 articles.

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4. Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias.;C Cagnoli;Hum Mutat,2010

5. Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.;U Edener;Eur J Hum Genet,2010

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