Article

A <i>de novo</i> missense mutation in <i>TUBA1A</i> results in reduced neural progenitor survival and differentiation

2017-10-16

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in tubulins have been implicated in numerous human neurobiological disorders collectively known as “tubulinopathies.” We identified a patient with severe cortical dysgenesis and a novel de novo heterozygous missense mutation in Tubulin Alpha 1a ( TUBA1A , c.1225 G>T). Induced pluripotent stem cells derived from this individual were differentiated into two dimensional neural rosette...

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Literature Corpus work: eaa516cd-7b7b-5fb7-b33c-507f617379ed
DOI: 10.1101/201814

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