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Scholarly Works (1 results)

Article
Peer Reviewed

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa

Duncan, Jacque;
Bowne, SJ;
Sullivan, LS;
Avery, CE;
Sasser, EM;
Roorda, A;
Duncan, JL;
Wheaton, DH;
Birch, DG;
Branham, KE;
Heckenlively, JR

UC San Francisco Previously Published Works (2013)

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 2