Article
Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.
Molecular vision - 1 Jan 2013
Bowne Sara J, Sullivan Lori S, Avery Cheryl E, Sasser Elizabeth M, Roorda Austin, Duncan Jacque L, Wheaton Dianna H, Birch David G, Branham Kari E, Heckenlively John R, Sieving Paul A, Daiger Stephen P
Abstract excerpt
PURPOSE: The purpose of this project was to determine the spectrum and frequency of mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) that cause autosomal dominant retinitis pigmentosa (adRP). METHODS: A well-characterized adRP cohort of 251 families was tested for mutations in the exons and intron/exon junctions of SNRNP200 using fluorescent dideoxy sequencing. An additional 21 adRP families...
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