Rapid detection of M1S1 mutations by the protein truncation test

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 9, 2000, Pages 2466-2468

  Tsujikawa, M ^a   Tsujikawa, K ^a   Maeda, N ^a   Watanabe, H ^a   Inoue, Y ^a   Mashima, Y ^a   Shimomura, Y ^a   Tano, Y ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; INTERMETHOD COMPARISON; MEMBRANE COMPONENT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DETERMINATION; SEQUENCE ANALYSIS; TECHNIQUE;

ANTIGENS, NEOPLASM; CELL ADHESION MOLECULES; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EYE PROTEINS; GENETIC COMPLEMENTATION TEST; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA;

EID: 0033859450     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. A rare case of corneal dystrophy
2. Identification of the gene responsible for gelatinous drop-like corneal dystrophy
3. Molecular diagnosis of familial adenomatous polyposis
4. Rapid detection of BRCA1 mutations by the protein truncation test
5. BRCA2 mutations in primary breast and ovarian cancers
6. Protein truncation test (PTT) for rapid detection of translation-terminating mutations
7. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa
8. Mutations in a novel retina-specific gene autosomal dominant retinitis pigmentosa
9. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa
10. Four novel dystrophin point mutations: Detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients
11. Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy (GDLD) to chromosome 1p