Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene

Molecular Vision

Volumn 16, Issue , 2010, Pages 467-475

  Vaclavik, Veronika ^a   Gaillard, Marie Claire ^a   Tiab, L ^b,c   Schorderet, Daniel F ^b,c   Munier, Francis L ^a,b,c  

^a HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

^b Institut de Recherche en Ophtalmologie   (Switzerland)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

PRECURSOR MESSENGER RNA PROCESSING FACTOR 3; PROTEIN PRECURSOR; PROTEIN PRPF3; UNCLASSIFIED DRUG; METHIONINE; NUCLEAR PROTEIN; PRPF3 PROTEIN, HUMAN; SMALL NUCLEAR RIBONUCLEOPROTEIN; THREONINE;

ADULT; AGED; ARTICLE; AUTOFLUORESCENCE IMAGING; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COLOR VISION; DISEASE COURSE; DISEASE SEVERITY; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; EXON; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; MYOPIA; NIGHT BLINDNESS; ONSET AGE; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE ANALYSIS; PERIMETRY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOPHYSIOLOGY; RETINA DEGENERATION; RETINITIS PIGMENTOSA; SCHOOL CHILD; SWITZERLAND; VISUAL FIELD DEFECT; VISUAL IMPAIRMENT; AMINO ACID SUBSTITUTION; DOMINANT GENE; EYE FUNDUS; FAMILY; FLUORESCENCE; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

ADULT; AGED; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FAMILY; FEMALE; FLUORESCENCE; FUNDUS OCULI; GENES, DOMINANT; HUMANS; MALE; METHIONINE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; RETINITIS PIGMENTOSA; RIBONUCLEOPROTEIN, U4-U6 SMALL NUCLEAR; SWITZERLAND; THREONINE; YOUNG ADULT;

EID: 77952310597     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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