Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa
- 10 September 2010
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 87 (3), 382-391
- https://doi.org/10.1016/j.ajhg.2010.07.022
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis PigmentosaAmerican Journal of Human Genetics, 2010
- EYS is a major gene for rod-cone dystrophies in FranceHuman Mutation, 2010
- A Homozygous Missense Mutation in theIRBPGene (RBP3) Associated with Autosomal Recessive Retinitis PigmentosaInvestigative Ophthalmology & Visual Science, 2009
- Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis PigmentosaAmerican Journal of Human Genetics, 2009
- Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis PigmentosaAmerican Journal of Human Genetics, 2008
- A Common Founder Mutation ofCERKLUnderlies Autosomal Recessive Retinal Degeneration with Early Macular Involvement among Yemenite JewsInvestigative Ophthalmology & Visual Science, 2007
- Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital AmaurosisAmerican Journal of Human Genetics, 2006
- Genomic Analysis of Mouse Retinal DevelopmentPLoS Biology, 2004
- Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type IIIJournal of Medical Genetics, 2003
- A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity.Journal of Medical Genetics, 1984