Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications

Japanese Journal of Ophthalmology

Volumn 51, Issue 1, 2007, Pages 45-48

  Taira, Kurenai ^a   Nakazawa, Mitsuru ^a   Sato, Motoya ^a  

^a HIROSAKI UNIVERSITY   (Japan)

Author keywords

Autosomal dominant; Mutation; PRPF31 gene; Retinitis pigmentosa

Indexed keywords

GENOMIC DNA;

ADULT; AGED; AMPLICON; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; JAPANESE; MALE; MUTATION RATE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PRPF31 GENE; RETINITIS PIGMENTOSA;

ADULT; AGED; CHROMOSOMES, HUMAN, PAIR 19; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENES, DOMINANT; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; RETROSPECTIVE STUDIES; RNA SPLICING; RNA, MESSENGER;

EID: 33847110217     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-006-0394-1     Document Type: Article

References (12)

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