Article
Doublecortin mutations cluster in evolutionarily conserved functional domains.
Human molecular genetics - 22 Mar 2000
Sapir T, Horesh D, Caspi M, Atlas R, Burgess H A, Wolf S G, Francis F, Chelly J, Elbaum M, Pietrokovski S, Reiner O
Abstract excerpt
Mutations in the X-linked gene doublecortin ( DCX ) result in lissencephaly in males or subcortical laminar heterotopia ('double cortex') in females. Various types of mutation were identified and the sequence differences included nonsense, splice site and missense mutations throughout the gene. R...
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