Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.
Vaclavik
Veronika
V
Hopital Ophtalmique Jules Gonin, Oculogenetic unit 15, Lausanne, Switzerland. veronikavaclavik@yahoo.co.uk
Gaillard
Marie-Claire
MC
Tiab
L
L
Schorderet
Daniel F
DF
Munier
Francis L
FL
D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005190:Family; D005260:Female; D005453:Fluorescence; D005654:Fundus Oculi; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017414:Ribonucleoprotein, U4-U6 Small Nuclear / Q000235:genetics*; D013557:Switzerland; D013912:Threonine / Q000235:genetics; D055815:Young Adult
D009687:Nuclear Proteins; C108507:PRPF3 protein, human; D017414:Ribonucleoprotein, U4-U6 Small Nuclear; D013912:Threonine; D008715:Methionine