A founder mutation inCERKLis a major cause of retinal dystrophy in Finland-Reference-Cited by-同舟云学术

A founder mutation inCERKLis a major cause of retinal dystrophy in Finland

Published:2017-10-25 Issue:2 Volume:96 Page:183-191
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmol

Author:

Avela Kristiina¹^ORCID,Sankila Eeva-Marja²,Seitsonen Sanna²,Kuuluvainen Liina¹,Barton Stephanie³,Gillies Stuart³,Aittomäki Kristiina¹

Affiliation:

1. Department of Clinical Genetics; Helsinki University Hospital; Helsinki Finland

2. Department of Ophthalmology; Helsinki University Hospital; Helsinki Finland

3. St Mary's Hospital; Central Manchester University Hospitals and Manchester Centre for Genomic Medicine; Manchester UK

Funder

Helsingin ja Uudenmaan Sairaanhoitopiiri

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/aos.13551/fullpdf

Reference30 articles.

1. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes;Abu-Safieh;Genome Res,2013

2. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy;Aleman;Invest Ophthalmol Vis Sci,2009

3. A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration;Ali;Mol Vis,2008

4. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews;Auslender;Invest Ophthalmol Vis Sci,2007

5. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray;Avila-Fernandez;Molecular Vision,2010

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