Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is clinically and genetically heterogeneous and can appear as syndromic or non-syndromic. Mucopolysaccharidosis type IIIC (MPS IIIC) is a lethal disorder, caused by mutations in the heparan-alpha-glucosaminide N-acety...

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Detalles Bibliográficos
Autores principales: Haer-Wigman, Lonneke, Newman, Hadas, Leibu, Rina, Bax, Nathalie M., Baris, Hagit N, Rizel, Leah, Banin, Eyal, Massarweh, Amir, Roosing, Susanne, Lefeber, Dirk J., Zonneveld-Vrieling, Marijke N., Isakov, Ofer, Shomron, Noam, Sharon, Dror, Den Hollander, Anneke I., Hoyng, Carel B., Cremers, Frans P.M., Ben-Yosef, Tamar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459392/
https://www.ncbi.nlm.nih.gov/pubmed/25859010
http://dx.doi.org/10.1093/hmg/ddv118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459392/
https://www.ncbi.nlm.nih.gov/pubmed/25859010
http://dx.doi.org/10.1093/hmg/ddv118

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