KEGG VARIANT: 1641v1

VARIANT: 1641v1

Entry

1641v1                      Variant

Name

DCX mutation

Type

Loss of function

Gene

DCX doublecortin [KO:K16579]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 300121

Network

nt06541 Cytoskeleton in neurons

Disease

Lissencephaly

Reference

Authors

Sapir T, Horesh D, Caspi M, Atlas R, Burgess HA, Wolf SG, Francis F, Chelly J, Elbaum M, Pietrokovski S, Reiner O

Title

Doublecortin mutations cluster in evolutionarily conserved functional domains.

Journal

Hum Mol Genet 9:703-12 (2000)
DOI:10.1093/hmg/9.5.703

Reference

Authors

Couillard-Despres S, Uyanik G, Ploetz S, Karl C, Koch H, Winkler J, Aigner L

Title

Mitotic impairment by doublecortin is diminished by doublecortin mutations found in patients.

Journal

Neurogenetics 5:83-93 (2004)
DOI:10.1007/s10048-004-0176-1

LinkDB

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