A heterozygous deletion of a noncoding part of the PRPF31 gene causes retinitis pigmentosa via reduced gene expression

被引：0
|
作者：
Ruberto, Francesco Paolo [1 ]
Balzano, Sara [1 ]
Kimchi, Adva [2 ]
Namburi, Prasanthi [2 ]
Ben-Yosef, Tamar [3 ]
Banin, Eyal [2 ]
Sharon, Dror [2 ]
Rivolta, Carlo [1 ,4 ]
机构：
[1] Univ Lausanne, Dept Computat Biol, Lausanne, Switzerland
[2] Hadassah Hebrew Univ Med Ctr, Dept Ophthalmol, Jerusalem, Israel
[3] Technion, Dept Med Genet, Haifa, Israel
[4] Univ Leicester, Dept Genet & Genome Biol, Leicester, Leics, England
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2018年 / 59卷 / 09期
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中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
5421
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页数：3
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