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<i>TUBA1A</i> mutations

15 Mar 2011

Abstract excerpt

BACKGROUND: Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria. METHODS: Twenty-five patients with malformations of cortical development ranging from lissencephaly to polymicrogyria were screened for mutations in TUBA1A. RESULTS: Two novel heterozygous missense mutations in TUBA1A were identified: c.629A>G (p.Tyr210Cys) occurring de novo in a boy with...

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PMID: 21403111
DOI: 10.1212/wnl.0b013e31821043f5

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