Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations

Investigative Ophthalmology and Visual Science

Volumn 39, Issue 10, 1998, Pages 1947-1953

  Okada, Masaki ^a   Yamamoto, Shnji ^a   Inone, Yoshitsiign ^a   Watanabe, Hitoshi ^a   Macda, Naoynki ^a   Sbimomtira, Yoshikazn ^a   Ishii, Yasno ^a   Tano, Find Yasno ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; ELECTRON MICROSCOPY; FEMALE; HISTOPATHOLOGY; HUMAN; JAPAN; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

ADULT; CHROMOSOMES, HUMAN, PAIR 5; CONSANGUINITY; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; DNA; DNA PRIMERS; EXTRACELLULAR MATRIX PROTEINS; EYE PROTEINS; FEMALE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; NEOPLASM PROTEINS; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; TRANSFORMING GROWTH FACTOR BETA;

EID: 0031682946     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

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10. Okada M, Yamamoto S, Watanabe H, et al. Granular corneal dystrophy with homozygous mutations in the keratoepithelin gene. Am J Ophthalmol. In press.