Founder Effect, Seen in the British Population, of the 172 Peripherin/RDS Mutation—and Further Refinement of Genetic Positioning of the Peripherin/RDS Gene-Reference-Cited by-同舟云学术

Founder Effect, Seen in the British Population, of the 172 Peripherin/RDS Mutation—and Further Refinement of Genetic Positioning of the Peripherin/RDS Gene

Published:1998-01 Issue:1 Volume:62 Page:192-195
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Payne Annette M.,Downes Susan M.,Bessant David A.R.,Bird Alan C.,Bhattacharya Shomi S.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. Mutations and polymorphisms in the human peripherin/RDS gene and their involvement in inherited retinal degeneration;Keen;Hum Mutat,1996

2. Retinal pattern dystrophy associated with a 4bp insertion at codon 140 in the RDS-peripherin gene;Keen;Hum Mol Genet,1994

3. Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin RDS gene in a Japanese family;Nakazawa;Retina J Retinal Vitreous Dis,1995

4. Full characterisation of the maculopathy associated with a Arg-172-Trp mutation in the RDS/peripherin gene;Piguet;Ophthalmic Genet,1996

5. A point mutation in the RDS-peripherin gene in a Spanish family with central areolar dystrophy;Reig;Ophthalmic Genet,1995

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