Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5
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Title
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5
Authors
Keywords
Dermal Fibroblast, Lissencephaly, Cerebellar Hypoplasia, Arthrogryposis Multiplex Congenita, Donor Splice Site Mutation
Journal
HUMAN GENETICS
Volume 134, Issue 3, Pages 305-314
Publisher
Springer Nature
Online
2015-01-05
DOI
10.1007/s00439-014-1522-5
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