Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response-Reference-Cited by-同舟云学术

Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response

Published:2011-09-12 Issue:12 Volume:32 Page:1398-1406
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Wissinger Bernd,Schaich Simone,Baumann Britta,Bonin Michael,Jägle Herbert,Friedburg Christoph,Varsányi Balázs,Hoyng Carel B.,Dollfus Hélène,Heckenlively John R.,Rosenberg Thomas,Rudolph Günter,Kellner Ulrich,Salati Roberto,Plomp Astrid,De Baere Elfride,Andrassi-Darida Monika,Sauer Alexandra,Wolf Christiane,Zobor Ditta,Bernd Antje,Leroy Bart P.,Enyedi Péter,Cremers Frans P.M.,Lorenz Birgit,Zrenner Eberhart,Kohl Susanne

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference25 articles.

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2. Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram;Ben-Salah;Am J Ophthalmol,2008

3. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification;Boycott;Am J Hum Genet,2005

4. Characterization of the heteromeric potassium channel formed by kv2.1 and the retinal subunit kv8.2 in Xenopus oocytes;Czirják;J Neurophysiol,2007

5. Ocular phenotype in 3 young siblings with a homozygous KCNV2 mutation followed for 14 years;Friedburg;Invest Ophthalmol Vis Sci,2007

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