Article
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
Human mutation - 1 Dec 2015
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
Abstract excerpt
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 noncoding defects or structural variations (SVs). The starting point of this study was an LCA9-associated consanguineous...
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