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Volumn 132, Issue 2, 2001, Pages 211-216

Two patterns of opacity in corneal dystrophy caused by the homozygous BIG-H3 R124H mutation

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONGENITAL CORNEA DYSTROPHY; CORNEA OPACITY; EYE INJURY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEREDITY; HUMAN; JAPAN; MALE; PATHOGENESIS; PRIORITY JOURNAL; STROMA;

EID: 0034901080     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(01)00962-X     Document Type: Article
Times cited : (27)

References (13)
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  • 2
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    • Folberg R, Alfonso E, Croxatto JO, et al. Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families. Ophthalmology 1988;95:46-51.
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    • Folberg, R.1    Alfonso, E.2    Croxatto, J.O.3
  • 3
    • 0026672931 scopus 로고
    • Avellino corneal dystrophy. Clinical manifestations and natural history
    • Holland EJ, Dava SM, Stone EM, et al. Avellino corneal dystrophy. Clinical manifestations and natural history. Ophthalmology 1992;99:1564-1568.
    • (1992) Ophthalmology , vol.99 , pp. 1564-1568
    • Holland, E.J.1    Dava, S.M.2    Stone, E.M.3
  • 4
    • 0027371142 scopus 로고
    • Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy
    • Rosenwasser GO, Sucheski BM, Rosa N, et al. Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy. Arch Ophthalmol 1993;111:1546-1552.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1546-1552
    • Rosenwasser, G.O.1    Sucheski, B.M.2    Rosa, N.3
  • 5
    • 0033462204 scopus 로고    scopus 로고
    • Advances in the molecular genetics of corneal dystrophies
    • Klintworth GK. Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol 1999;128:747-754.
    • (1999) Am J Ophthalmol , vol.128 , pp. 747-754
    • Klintworth, G.K.1
  • 6
    • 0031682946 scopus 로고    scopus 로고
    • Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations
    • Okada M, Yamamoto S, Inoue Y, et al. Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations. Invest Ophthalmol Vis Sci 1998;39:1947-1953.
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 1947-1953
    • Okada, M.1    Yamamoto, S.2    Inoue, Y.3
  • 7
    • 0004449934 scopus 로고
    • Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients
    • Mashima Y, Konishi M, Nakamura Y, et al. Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients. Br J Ophthalmol 1992;110:175-176.
    • (1992) Br J Ophthalmol , vol.110 , pp. 175-176
    • Mashima, Y.1    Konishi, M.2    Nakamura, Y.3
  • 8
    • 85047679031 scopus 로고    scopus 로고
    • Homozygotic patients with big-h3 gene mutation in granular dystrophy
    • Fujiki K, Hotta Y, Nakayasu K, Kanai A. Homozygotic patients with big-h3 gene mutation in granular dystrophy. Cornea 1998;17:288-292.
    • (1998) Cornea , vol.17 , pp. 288-292
    • Fujiki, K.1    Hotta, Y.2    Nakayasu, K.3    Kanai, A.4
  • 9
    • 0034064766 scopus 로고    scopus 로고
    • Corneal guttata associated with the corneal dystrophy resulting from a ig-h3 R124H mutation
    • Akimune C, Watanabe H, Maeda N, et al. Corneal guttata associated with the corneal dystrophy resulting from a ig-h3 R124H mutation. Br J Ophthalmol 2000;84:67-71.
    • (2000) Br J Ophthalmol , vol.84 , pp. 67-71
    • Akimune, C.1    Watanabe, H.2    Maeda, N.3
  • 10
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    • Konishi M, Yamada M, Nakamura Y, Mashima Y. Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene. Cornea 1999;18:424-429.
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  • 11
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    • Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein
    • Korvatska E, Henry H, Mashima Y, et al. Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein. J Biol Chem 2000;275:11465-11469.
    • (2000) J Biol Chem , vol.275 , pp. 11465-11469
    • Korvatska, E.1    Henry, H.2    Mashima, Y.3
  • 12
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    • Rodrigues, M.M.1    Gaster, R.N.2    Pratt, M.V.3
  • 13
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.