Article
The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Mar 2009
Bandah Dikla, Merin Saul, Ashhab Munther, Banin Eyal, Sharon Dror
Abstract excerpt
OBJECTIVES: To evaluate the involvement of NR2E3 in inherited retinal degenerative diseases in the Israeli and Palestinian populations and to study phenotypic variability in patients who are homozygous for the same mutation. METHODS: Patients from 35 families underwent clinical evaluation, including a full ophthalmologic examination and electroretinography. Genetic analyses included direct sequencing of...
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