Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

PURPOSE: Peroxisomes perform complex metabolic and catabolic functions essential for normal growth and development. Mutations in 14 genes cause a spectrum of peroxisomal disease in humans. Most recently, PEX11B was associated with an atypical peroxisome biogenesis disorder (PBD) in a single individu...

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Detalles Bibliográficos
Autores principales: Taylor, Rachel L., Handley, Mark T., Waller, Sarah, Campbell, Christopher, Urquhart, Jill, Meynert, Alison M., Ellingford, Jamie M., Donnelly, Deirdre, Wilcox, Gisela, Lloyd, I. Chris, Mundy, Helen, FitzPatrick, David R., Deshpande, Charu, Clayton-Smith, Jill, Black, Graeme C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841568/
https://www.ncbi.nlm.nih.gov/pubmed/28129423
http://dx.doi.org/10.1167/iovs.16-21026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841568/
https://www.ncbi.nlm.nih.gov/pubmed/28129423
http://dx.doi.org/10.1167/iovs.16-21026

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