Novel Null Mutations in theEYSGene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population
Author(s) -
Dikla Bandah-Rozenfeld,
Karin W. Littink,
Tamar BenYosef,
Tim M. Strom,
Itay Chowers,
Rob W.J. Collin,
Anneke I. den Hollander,
L. Ingeborgh van den Born,
Marijke N. Zonneveld,
Saul Merin,
Eyal Banin,
Frans P.M. Cremers,
Dror Sharon
Publication year - 2010
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.09-4732
Subject(s) - retinitis pigmentosa , genetics , mutation , biology , genotyping , founder effect , population , gene , genotype , medicine , haplotype , environmental health
To characterize the role of EYS, a recently identified retinal disease gene, in families with inherited retinal degenerations in the Israeli and Palestinian populations.
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