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W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa

Authors :
C, Bareil
V, Delague
B, Arnaud
J, Demaille
C, Hamel
M, Claustres
Source :
Human mutation. 15(6)
Publication Year :
2000

Subjects

Subjects :
Membrane Glycoproteins
Intermediate Filament Proteins
Retinal Degeneration
Mutation, Missense
Peripherins
Tryptophan
Humans
Nerve Tissue Proteins
Arginine
Retinitis Pigmentosa
Genes, Dominant

Details

ISSN :
10981004
Volume :
15
Issue :
6
Database :
OpenAIRE
Journal :
Human mutation
Accession number :
edsair.pmid..........e4ecc276c0e34f4598b4200f164eb6c9

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Authors Abstract Subjects Details