A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
Publication year
2003Source
Journal of Medical Genetics, 40, 9, (2003), pp. 709-13ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Journal title
Journal of Medical Genetics
Volume
vol. 40
Issue
iss. 9
Page start
p. 709
Page end
p. 13
Subject
UMCN 3.3: Neurosensory disorders; UMCN 5.1: Genetic defects of metabolismThis item appears in the following Collection(s)
- Academic publications [226841]
- Faculty of Medical Sciences [86405]
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