Article
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.
PloS one - 1 Jan 2017
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
Abstract excerpt
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 retardation. METHODS AND RESULTS: Single nucleotide polymorphism (SNP) chip analysis followed by Exome sequencing...
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