GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

BACKGROUND: With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families with an autosomal recessive cerebellar ataxia with cataracts and mental retar...

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Vydáno v:PLoS One
Hlavní autoři: Haugarvoll, Kristoffer, Johansson, Stefan, Rodriguez, Carlos E., Boman, Helge, Haukanes, Bjørn Ivar, Bruland, Ove, Roque, Francisco, Jonassen, Inge, Blomqvist, Maria, Telstad, Wenche, Månsson, Jan-Eric, Knappskog, Per Morten, Bindoff, Laurence A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2017
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5215700/
https://ncbi.nlm.nih.gov/pubmed/28052128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0169309
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