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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Vydáno v:Hum Mutat
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2015
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Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5054839/
https://ncbi.nlm.nih.gov/pubmed/26316326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22899
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