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First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria

  • Author(s): Chehab, Farid
  • Habbal, MZ
  • Bou-Assi, T
  • Zhu, J
  • Owen, R
  • Chehab, FF
  • et al.

Published Web Location

http://europepmc.org/articles/PMC4169433?pdf=render
No data is associated with this publication.
Abstract

© 2014 Habbal et al.Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemically by the accumulation of peripheral homogentisic acid and molecularly by the presence of mutations in the homogentisate 1,2-dioxygenase gene (HGD). Alka

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