Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa-Reference-Cited by-同舟云学术

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Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

Published:2010-08-31 Issue:11 Volume:31 Page:E1772-E1800
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Barragán Isabel,Borrego Salud,Pieras Juan Ignacio,Pozo María González-del,Santoyo Javier,Ayuso Carmen,Baiget Montserrat,Millan José M.,Mena Marcela,El-Aziz Mai M. Abd,Audo Isabelle,Zeitz Christina,Littink Karin W.,Dopazo Joaquín,Bhattacharya Shomi S.,Antiñolo Guillermo

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 71 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Resolving the diagnostic odyssey in inherited retinal dystrophies through long-read genome sequencing;2024-08-30

2. Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene;Scientific Reports;2024-08-10

3. Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa;PLOS ONE;2024-06-24

4. Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene;Mobile DNA;2024-05-04

5. Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene;2024-04-29

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