Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.

Autor: Shankar, Suma P, Birch, David G, Ruiz, Richard S, Hughbanks-Wheaton, Dianna K, Sullivan, Lori S, Bowne, Sara J, Stone, Edwin M, Daiger, Stephen P
Zdroj: JAMA Ophthalmology; May2015, Vol. 133 Issue 5, p511-517, 7p
Databáze: Complementary Index