Amyloid and Pro501Thr-mutated βig-h3 gene product colocalize in lattice corneal dystrophy type IIIA

American Journal of Ophthalmology

Volumn 127, Issue 4, 1999, Pages 456-458

  Kawasaki, Satoshi ^a   Nishida, Kohji ^a   Quantock, Andrew J ^a   Dota, Atsuyoshi ^a   Bennett, Kelly ^a   Kinoshita, Shigeru ^a  

^a KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; GENE PRODUCT; PROTEIN; BETAIG H3 PROTEIN; BETAIG-H3 PROTEIN; CONGO RED; DNA; PROLINE; SCLEROPROTEIN; THREONINE; TRANSFORMING GROWTH FACTOR BETA; TUMOR PROTEIN;

AGED; ARTICLE; CASE REPORT; CORNEA DYSTROPHY; DISTRIBUTION VOLUME; DNA TEMPLATE; GENE LOCATION; GENE MUTATION; HUMAN; MALE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TISSUE DISTRIBUTION; CONGENITAL CORNEA DYSTROPHY; ENZYME IMMUNOASSAY; EXON; GENETICS; METABOLISM; PATHOLOGY; POINT MUTATION;

AGED; AMYLOID; CONGO RED; CORNEAL DYSTROPHIES, HEREDITARY; DNA; EXONS; EXTRACELLULAR MATRIX PROTEINS; HUMANS; IMMUNOENZYME TECHNIQUES; MALE; NEOPLASM PROTEINS; POINT MUTATION; POLYMERASE CHAIN REACTION; PROLINE; THREONINE; TRANSFORMING GROWTH FACTOR BETA;

EID: 0033106510     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(98)00360-2     Document Type: Article

References (5)

1. Stock E.L., Feder R.S., O'Grady R.B., Sugar J., Roth S.I. Lattice corneal dystrophy type IIIA. Arch Ophthalmol. 109:1991;354-358.
2. Yamamoto S., Okada M., Tsujikawa M., et al. A kerato-epithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet. 62:1998;719-722.
3. Munier F.L., Korvatska E., Djemai A., et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 15:1997;247-251.
4. Okada M., Yamamoto S., Tsujikawa M., et al. Two distinct keratoepithelin mutations in Reis-Bücklers' corneal dystrophy. Am J Ophthalmol. 125:1998;535-542.
5. Klintworth G.K., Valnickova Z., Enghild J.J. Accumulation of βig-h3 gene product in corneas with granular dystrophy. Am J Pathol. 152:1998;743-748.