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|Title:||Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis|
Weleber, Richard G.
Rassi Gabriel, Luis Alexandre
Sallum, Juliana Maria Ferraz [UNIFESP]
Beijing Genom Inst BGI Shenzhen
Casey Eye Inst
Womens & Childrens Hosp
Retina Fdn SW
Oregon Hlth & Sci Univ
Universidade Federal de Goiás (UFG)
Universidade Federal de São Paulo (UNIFESP)
|Publisher:||Nature Publishing Group|
|Citation:||Nature Genetics. New York: Nature Publishing Group, v. 44, n. 9, p. 972-974, 2012.|
|Abstract:||Leber congenital amaurosis (LCA) is an autosomal recessive retinal dystrophy that manifests with genetic heterogeneity. We sequenced the exome of an individual with LCA and identified nonsense (c.507G > A, p.Trp169*) and missense (c.769G > A, p.Glu257Lys) mutations in NMNAT1, which encodes an enzyme in the nicotinamide adenine dinucleotide (NAD) biosynthesis pathway implicated in protection against axonal degeneration. We also found NMNAT1 mutations in ten other individuals with LCA, all of whom carry the p.Glu257Lys variant.|
|Appears in Collections:||Em verificação - Geral|
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