Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

Title
Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 86, Issue 6, Pages 881-891
Publisher
Elsevier BV
Online
2010-05-21
DOI
10.1016/j.ajhg.2010.04.013

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