Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis-Reference-Cited by-同舟云学术

Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

Published:2006-09 Issue:3 Volume:79 Page:556-561
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

den Hollander Anneke I.,Koenekoop Robert K.,Yzer Suzanne,Lopez Irma,Arends Maarten L.,Voesenek Krysta E.J.,Zonneveld Marijke N.,Strom Tim M.,Meitinger Thomas,Brunner Han G.,Hoyng Carel B.,van den Born L. Ingeborgh,Rohrschneider Klaus,Cremers Frans P.M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. Molecular genetics of Leber congenital amaurosis;Cremers;Hum Mol Genet,2002

2. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy;Janecke;Nat Genet,2004

3. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis;Bowne;Invest Ophthalmol Vis Sci,2006

4. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis;Hanein;Hum Mutat,2004

5. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles;Zernant;Invest Ophthalmol Vis Sci,2005

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