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A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
Published Web Location
http://europepmc.org/articles/PMC4284018?pdf=renderNo data is associated with this publication.
Abstract
Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investigated us
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