Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1
- 1 April 2002
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 70 (4) , 955-964
- https://doi.org/10.1086/339688
Abstract
No abstract availableKeywords
This publication has 29 references indexed in Scilit:
- Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive DisorderScience, 2001
- Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1Clinical Genetics, 2001
- Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other LociAmerican Journal of Human Genetics, 2001
- Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1) to a Small Region of 11q13, through Linkage and Haplotype Analysis of 91 PedigreesAmerican Journal of Human Genetics, 1999
- Nonsense-mediated mRNA decayin health and diseaseHuman Molecular Genetics, 1999
- A Perfect MessageCell, 1999
- Mutation of the gene encoding cellular retinaldehyde–binding protein in autosomal recessive retinitis pigmentosaNature Genetics, 1997
- Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sitesHuman Mutation, 1995
- Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7Genomics, 1992
- Inbreeding in outport NewfoundlandAmerican Journal of Medical Genetics, 1988