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

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

<h4>Background</h4>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 catarac...

Full description

Bibliographic Details
Main Authors: Kristoffer Haugarvoll, Stefan Johansson, Carlos E Rodriguez, Helge Boman, Bjørn Ivar Haukanes, Ove Bruland, Francisco Roque, Inge Jonassen, Maria Blomqvist, Wenche Telstad, Jan-Eric Månsson, Per Morten Knappskog, Laurence A Bindoff
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0169309&type=printable

Internet

https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0169309&type=printable

Similar Items