Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 242, Issue 11, 2004, Pages 956-961

  Wada, Yuko ^a   Itabashi, Toshitaka ^a   Sato, Hajime ^a   Tamai, Makoto ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GENOMIC DNA; PROTEIN HPRP3; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIOMICROSCOPY; CLINICAL FEATURE; DISEASE COURSE; ELECTRORETINOGRAPHY; FAMILY; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RETINOBLASTOMA; SLIT LAMP; VISUAL ACUITY; VISUAL FIELD;

ADULT; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENES, DOMINANT; HUMANS; JAPAN; MALE; MIDDLE AGED; NUCLEAR PROTEINS; PEDIGREE; PERIMETRY; POINT MUTATION; RETINITIS PIGMENTOSA; RIBONUCLEOPROTEIN, U4-U6 SMALL NUCLEAR; VISUAL ACUITY; VISUAL FIELDS;

EID: 3242795086     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00417-004-0923-x     Document Type: Article

References (11)

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