Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis
Open Access
- 15 July 2011
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 89 (1), 183-190
- https://doi.org/10.1016/j.ajhg.2011.06.002
Abstract
No abstract availableKeywords
This publication has 29 references indexed in Scilit:
- Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophiesJCI Insight, 2010
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing dataNucleic Acids Research, 2010
- Photoreceptor degeneration: genetic and mechanistic dissection of a complex traitNature Reviews Genetics, 2010
- Crystal Structure of the Eukaryotic Strong Inward-Rectifier K + Channel Kir2.2 at 3.1 Å ResolutionScience, 2009
- Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10Proceedings of the National Academy of Sciences of the United States of America, 2009
- Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVsNature Genetics, 2008
- Leber congenital amaurosis: Genes, proteins and disease mechanismsProgress in Retinal and Eye Research, 2008
- Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal DegenerationAmerican Journal of Human Genetics, 2008
- Autosomal dominante vitreoretinale Dystrophie mit Skelettdysplasie in einer GenerationKlinische Monatsblätter für Augenheilkunde, 1991
- Snowflake Degeneration: An Independent Entity or a Variant of Retinitis Pigmentosa?Southern Medical Journal, 1986