Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the prevalence of sequence variants in AIPL1 in a large coh...

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Detalles Bibliográficos
Autores principales: Tan, Mei Hong, Mackay, Donna S., Cowing, Jill, Tran, Hoai Viet, Smith, Alexander J., Wright, Genevieve A., Dev-Borman, Arundhati, Henderson, Robert H., Moradi, Phillip, Russell-Eggitt, Isabelle, MacLaren, Robert E., Robson, Anthony G., Cheetham, Michael E., Thompson, Dorothy A., Webster, Andrew R., Michaelides, Michel, Ali, Robin R., Moore, Anthony T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295755/
https://www.ncbi.nlm.nih.gov/pubmed/22412862
http://dx.doi.org/10.1371/journal.pone.0032330

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295755/
https://www.ncbi.nlm.nih.gov/pubmed/22412862
http://dx.doi.org/10.1371/journal.pone.0032330

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