Spectrum ofSPATA7mutations in Leber congenital amaurosis and delineation of the associated phenotype-Reference-Cited by-同舟云学术

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Spectrum ofSPATA7mutations in Leber congenital amaurosis and delineation of the associated phenotype

Published:2010-03 Issue:3 Volume:31 Page:E1241-E1250
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Perrault Isabelle,Hanein Sylvain,Gerard Xavier,Delphin Nathalie,Fares-Taie Lucas,Gerber Sylvie,Pelletier Valérie,Mercé Emilie,Dollfus Hélène,Puech Bernard,Defoort-Dhellemmes Sabine,Petersen Michael D,Zafeiriou Dimitrios,Munnich Arnold,Kaplan Josseline,Roche Olivier,Rozet Jean-Michel

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21203/fullpdf

Cited by 21 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. SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland;Klinische Monatsblätter für Augenheilkunde;2023-04

2. Spata7 is required for maintenance of the retinal connecting cilium;Scientific Reports;2022-04-02

3. Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art;Frontiers in Medicine;2021-10-15

4. Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations;Genes;2021-08-19

5. The spermatogenesis-associated protein-7 (SPATA7) gene – an overview;Ophthalmic Genetics;2020-08-17

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