Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

We employed whole exome sequencing to investigate three Norwegian siblings with an autosomal recessive spastic ataxia and epilepsy. All patients were compound heterozygous (c.13352T>C, p.Leu4451Pro; c.6890T>G, p.Leu2297Trp) for mutations in the SACS gene establishing the diagnosis of autosomal...

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Detalhes bibliográficos
Main Authors: Tzoulis, Charalampos, Johansson, Stefan, Haukanes, Bjørn Ivar, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3681964/
https://ncbi.nlm.nih.gov/pubmed/23785480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0066145
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