Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis  

Oleh:

Pei-Wen, Chiang ; Juan, Wang ; Yang, Chen ; Quan, Fu ; Jing, Zhong

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Nature Genetics vol. 44 no. 09 (Sep. 2012), page 972–974.

Ketersediaan

Perpustakaan FK Nomor Panggil: N12.K Non-tandon: tidak ada Tandon: 1

Lihat Detail Induk

Isi artikel

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

Opini Anda

Klik untuk menuliskan opini Anda tentang koleksi ini!

Kembali