Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling-Reference-Cited by-同舟云学术

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Published:2006 Issue:1 Volume:28 Page:81-91
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Pelletier Valérie,Jambou Marguerite,Delphin Nathalie,Zinovieva Elena,Stum Morgane,Gigarel Nadine,Dollfus Hélène,Hamel Christian,Toutain Annick,Dufier Jean-Louis,Roche Olivier,Munnich Arnold,Bonnefont Jean-Paul,Kaplan Josseline,Rozet Jean-Michel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference54 articles.

1. X-Linked Recessive Atrophic Macular Degeneration from RPGR Mutation

2. Functional Overlap between Retinitis Pigmentosa 2 Protein and the Tubulin-specific Chaperone Cofactor C

3. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

4. X-linked retinitis pigmentosa.

5. A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

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