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

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 ocular lens expresses NHS-A, t...

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Detalles Bibliográficos
Autores principales: Sharma, Shiwani, Burdon, Kathryn P., Dave, Alpana, Jamieson, Robyn V., Yaron, Yuval, Billson, Frank, Van Maldergem, Lionel, Lorenz, Birgit, Gécz, Jozef, Craig, Jamie E.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2571945/
https://www.ncbi.nlm.nih.gov/pubmed/18949062

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2571945/
https://www.ncbi.nlm.nih.gov/pubmed/18949062

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