A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers

Published 2014 View Full Article

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Title
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers
Authors
Keywords
Splicing mutation, Saposin B, Prosaposin, Metachromatic leukodystrophy, Tigroid pattern, White matter disorder, Lysosomal disorder
Journal
NEUROGENETICS
Volume 15, Issue 2, Pages 101-106
Publisher
Springer Nature
Online
2014-01-30
DOI
10.1007/s10048-014-0390-4
References
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