Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family

BACKGROUND: Macular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterized by progressive corneal opacity that starts in early childhood and ultimately progresses to blindness in early adulthood. The aim of this study was to identify the cause of MCD in a black South Af...

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Detalles Bibliográficos
Autores principales: Carstens, Nadia, Williams, Susan, Goolam, Saadiah, Carmichael, Trevor, Cheung, Ming Sin, Büchmann-Møller, Stine, Sultan, Marc, Staedtler, Frank, Zou, Chao, Swart, Peter, Rice, Dennis S., Lacoste, Arnaud, Paes, Kim, Ramsay, Michèle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955246/
https://www.ncbi.nlm.nih.gov/pubmed/27439461
http://dx.doi.org/10.1186/s12881-016-0308-0

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