Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)

Title
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
Authors
Keywords
-
Journal
NEUROGENETICS
Volume 10, Issue 1, Pages -
Publisher
Springer Nature
Online
2008-09-23
DOI
10.1007/s10048-008-0148-y

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