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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Veröffentlicht in:PLoS One
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2017
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Research Article
Online Zugang: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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