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serval:BIB_7E8675283512
Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.
20309403
000279076200001
Vaclavik
V.
author
Gaillard
M.C.
author
Tiab
L.
author
Schorderet
D.F.
author
Munier
F.L.
author
article
2010
Molecular Vision
1090-0535[electronic], 1090-0535[linking]
journal
16
467-475
Adult
Aged
Amino Acid Substitution/genetics
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
Electroretinography
Family
Female
Fluorescence
Fundus Oculi
Genes, Dominant/genetics
Humans
Male
Methionine/genetics
Middle Aged
Molecular Sequence Data
Mutation/genetics
Nuclear Proteins/genetics
Phenotype
Retinitis Pigmentosa/genetics
Ribonucleoprotein, U4-U6 Small Nuclear/genetics
Switzerland
Threonine/genetics
Young Adult
eng
60_published
peer-reviewed
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
https://serval.unil.ch/notice/serval:BIB_7E8675283512
https://serval.unil.ch/resource/serval:BIB_7E8675283512.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7E86752835125
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