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Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Bandah-Rozenfeld, D; Littink, KW; Ben-Yosef, T; Strom, TM; Chowers, I; Collin, RW; den Hollander, AI; van den Born, LI; Zonneveld, MN; Merin, S; Banin, E; Cremers, FP; Sharon, D
Titel:
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
Abstract:
To characterize the role of EYS, a recently identified retinal disease gene, in families with inherited retinal degenerations in the Israeli and Palestinian populations.Clinical and molecular analyses included family history, ocular examination, full-field electroretinography (ERG), perimetry, autozygosity mapping, mutation detection, and estimation of mutation age.Autozygosity mapping was performed in 171 consanguineous Israeli and Palestinian families with inherited retinal degenerations. Larg...     »
Zeitschriftentitel:
Invest Ophthalmol Vis Sci
Jahr:
2010
Band / Volume:
51
Heft / Issue:
9
Seitenangaben Beitrag:
4387-94
Sprache:
eng
Volltext / DOI:
doi:10.1167/iovs.09-4732
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/20375346
Print-ISSN:
0146-0404
TUM Einrichtung:
Institut für Humangenetik
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