Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

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Shama, S. ; Burdon, K. P. ; Dave, A. ; Jamieson, R. V. ; Yaron, Y. ; Billson, F. ; Van Maldergem, Lionel ; Lorenz, B. ; Gécz, J. ; Craig, J. E. (2008)
  • Publisher: Molecular Vision
  • Journal: volume 14, pages 1,856-1,864 (eissn: 1090-0535)
  • Related identifiers: pmc: PMC2571945
  • Subject: : Génétique & processus génétiques [Sciences du vivant] | Research Article | : Genetics & genetic processes [Life sciences]

Purpose Nance-Horan syndrome is typically characterized by severe bilateral congenital cataracts and dental abnormalities. Truncating mutations in the Nance-Horan syndrome (NHS) gene cause this X-linked genetic disorder. NHS encodes two isoforms, NHS-A and NHS-1A. The o... View more
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