Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1

• Main Authors: Eichers, Erica R., Green, Jane S., Stockton, David W., Jackman, Christopher S., Whelan, James, McNamara, J. Arch, Johnson, Gordon J., Lupski, James R., Katsanis, Nicholas
• Format: Text
• Language: English
• Published: The American Society of Human Genetics 2002
• Subjects: Articles; Long Arm; Newfoundland
• Online Access: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379124; http://www.ncbi.nlm.nih.gov/pubmed/11868161

Some isolated populations exhibit an increased prevalence of rare recessive diseases. The island of Newfoundland is a characteristic geographic isolate, settled by a small number of families primarily during the late 1700s and early 1800s. During our studies of this population, we identified a group...