Journal article
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
- Abstract:
-
We have recently reported a missense mutation in exon 4 of the tubulin alpha 1A (Tuba1a) gene in a hyperactive N-ethyl-N-nitrosourea (ENU) induced mouse mutant with abnormal lamination of the hippocampus. Neuroanatomical similarities between the Tuba1a mutant mouse and mice deficient for Doublecortin (Dcx) and Lis1 genes, and the well-established functional interaction between DCX and microtubules (MTs), led us to hypothesize that mutations in TUBA1A (TUBA3, previous symbol), the human homolo...
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- Publication status:
- Published
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- Publisher copy:
- 10.1002/humu.20572
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Bibliographic Details
- Journal:
- Human mutation
- Volume:
- 28
- Issue:
- 11
- Pages:
- 1055-1064
- Publication date:
- 2007-11-01
- DOI:
- EISSN:
-
1098-1004
- ISSN:
-
1059-7794
- Source identifiers:
-
2329
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:2329
- UUID:
-
uuid:145189dd-344b-466c-8f77-a4a4ef9491cb
- Local pid:
- pubs:2329
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2007
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