Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa-Reference-Cited by-同舟云学术

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Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

Published:1999-09 Issue:6 Volume:7 Page:687-694
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Miano Maria Giuseppina,Testa Francesco,Strazzullo Maria,Trujillo Mariajose,De Bernardo Carmelilia,Grammatico Barbara,Simonelli Francesca,Mangino Massimo,Torrente Isabella,Ruberto Giulio,Beneyto Magdalena,Antinolo Guillermo,Rinaldi Ernesto,Danesino Cesare,Ventruto Valerio,D'Urso Michele,Ayuso Carmen,Baiget Monserrat,Ciccodicola Alfredo

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5200352.pdf

Cited by 29 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. Mutation Analysis of the RPGR Gene in a Chinese Cohort;Frontiers in Genetics;2022-03-31

2. Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review;Frontiers in Genetics;2021-06-23

3. Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations;Investigative Opthalmology & Visual Science;2020-12-29

4. Detailed comparison of phenotype between male patients carrying variants in exons 1–14 and ORF15 of RPGR;Experimental Eye Research;2020-09

5. Development of High-Throughput Clinical Testing ofRPGRORF15 Using a Large Inherited Retinal Dystrophy Cohort;Investigative Opthalmology & Visual Science;2018-09-04

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