DominantPRPF31Mutations Are Hypostatic to a RecessiveCNOT3Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “LinkedTrans-Acting Epistasis”

Author:

Rose Anna M.1,Shah Amna Z.1,Venturini Giulia2,Rivolta Carlo2,Rose Geoffrey E.3,Bhattacharya Shomi S.1

Affiliation:

1. Department of Genetics; UCL Institute of Ophthalmology; London United Kingdom

2. Department of Medical Genetics; University of Lausanne; Lausanne Switzerland

3. BRC; NIHR Institute of Ophthalmology; London United Kingdom

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference44 articles.

1. Abu Safieh , L. 2003 Molecular genetic study of autosomal dominant retinitis pigmentosa on chromosome 19q13.4

2. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype;Al-Maghtheh;Am J Hum Genet,1996

3. Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports;Audo;BMC Med Genet,2010

4. Mendel's principles of heredity / by W. Bateson.

5. Epistasis and the release of genetic variation during long-term selection;Carlborg;Nat Genet,2006

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