Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
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...
Main Authors: | , , , , , , , , |
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Format: | Article in Journal/Newspaper |
Language: | unknown |
Published: |
2002
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Subjects: | |
Online Access: | http://discovery.ucl.ac.uk/58634/ |