Arg124Cys mutation of the βig-h3 gene in a Japanese family with lattice corneal dystrophy type I

Japanese Journal of Ophthalmology

Volumn 42, Issue 6, 1999, Pages 450-455

  Hotta, Yoshihiro ^a   Fujiki, Keiko ^a   Ono, ^a   Fujimaki, Takuro ^a   Nakayasu, Kiyoo ^a   Yamaguchi, Tatsuo ^b   Kanai, Atsushi ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b ST LUKE'S INTERNATIONAL HOSPITAL   (Japan)

Author keywords

High penetrance; Lamellar keratoplasty; Lattice corneal dystrophy; Point mutation; ig h3

Indexed keywords

ARGININE; BETAIG H3 PROTEIN; BETAIG-H3 PROTEIN; DNA; PRIMER DNA; SCLEROPROTEIN; TRANSFORMING GROWTH FACTOR BETA; TUMOR PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASE PAIRING; CLINICAL ARTICLE; CORNEA DYSTROPHY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; KERATOPLASTY; MALE; MULTIGENE FAMILY; PENETRANCE; POINT MUTATION; PRIORITY JOURNAL; AGED; CHEMISTRY; CONGENITAL CORNEA DYSTROPHY; FAMILY; GENETICS; JAPAN; MIDDLE AGED; PEDIGREE; PENETRATING KERATOPLASTY; POLYMERASE CHAIN REACTION; VISUAL DISORDER;

ADULT; AGED; AGED, 80 AND OVER; CORNEAL DYSTROPHIES, HEREDITARY; DNA; DNA PRIMERS; EXTRACELLULAR MATRIX PROTEINS; FAMILY; FEMALE; HUMANS; JAPAN; KERATOPLASTY, PENETRATING; MALE; MIDDLE AGED; NEOPLASM PROTEINS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; TRANSFORMING GROWTH FACTOR BETA; VISION DISORDERS;

EID: 0032198676     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-5155(98)00050-1     Document Type: Article

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