GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing

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Title
GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing
Authors
Keywords
Exome sequencing, Fabry disease, The , GLA, gene, p.E66Q, XCI analysis
Journal
GENE
Volume 575, Issue 2, Pages 363-367
Publisher
Elsevier BV
Online
2015-10-18
DOI
10.1016/j.gene.2015.09.088

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