Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1

Leber congenital amaurosis (LCA) is a severe autosomal‐recessive retinal dystrophy leading to congenital blindness. A recently identified LCA gene is NMNAT1, located in the LCA9 locus. Although most mutations in blindness genes are coding variations, there is accumulating evidence for hidden noncodi...

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Detalles Bibliográficos
Autores principales: Coppieters, Frauke, Todeschini, Anne Laure, Fujimaki, Takuro, Baert, Annelot, De Bruyne, Marieke, Van Cauwenbergh, Caroline, Verdin, Hannah, Bauwens, Miriam, Ongenaert, Maté, Kondo, Mineo, Meire, Françoise, Murakami, Akira, Veitia, Reiner A., Leroy, Bart P., De Baere, Elfride
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054839/
https://www.ncbi.nlm.nih.gov/pubmed/26316326
http://dx.doi.org/10.1002/humu.22899

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