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Open Access Publications from the University of California

A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.

  • Author(s): Moore, Anthony
  • Borman, AD
  • Pearce, LR
  • Mackay, DS
  • Nagel-Wolfrum, K
  • Davidson, AE
  • Henderson, R
  • Garg, S
  • Waseem, NH
  • Webster, AR
  • Plagnol, V
  • et al.

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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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