Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa
Open Access
- 30 October 2008
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 83 (5), 594-603
- https://doi.org/10.1016/j.ajhg.2008.10.014
Abstract
No abstract availableKeywords
This publication has 39 references indexed in Scilit:
- Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in miceJournal of Clinical Investigation, 2008
- Linkage Validation of RP25 Using the 10K GeneChip Array and Further Refinement of the Locus by New Linked FamiliesAnnals of Human Genetics, 2008
- Large‐scale Molecular Analysis of a 34 Mb Interval on Chromosome 6q: Major Refinement of the RP25 IntervalAnnals of Human Genetics, 2008
- Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 geneHuman Genetics, 2007
- Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Müller glia cellsHuman Molecular Genetics, 2006
- Genetic Factors Modifying Clinical Expression of Autosomal Dominant RPPublished by Springer Nature ,2005
- Agrin Is a Chimeric Proteoglycan with the Attachment Sites for Heparan Sulfate/Chondroitin Sulfate Located in Two Multiple Serine-Glycine ClustersJournal of Biological Chemistry, 2003
- A Major Locus for Autosomal Recessive Retinitis Pigmentosa on 6q, Determined by Homozygosity Mapping of Chromosomal Regions That Contain Gamma-Aminobutyric Acid–Receptor ClustersAmerican Journal of Human Genetics, 1998
- Standard for clinical electro-oculographyDocumenta Ophthalmologica, 1993