Corneal dystrophies in japan

Journal of Human Genetics

Volumn 46, Issue 8, 2001, Pages 431-435

  Fujiki, K ^a   Nakayasu, K ^a   Kanai, A ^a  

^a JUNTENDO UNIVERSITY   (Japan)

Author keywords

Avellino corneal dystrophy; Founder mutation; Gelatinous drop like corneal dystrophy; Hereditary corneal dystrophy; M1S1 gene; Mutation; TGFBI(BIGH3) gene

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA1;

ALLELE; AMYLOIDOSIS; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 1P; CHROMOSOME 5Q; CONSANGUINEOUS MARRIAGE; CORNEA DYSTROPHY; ETHNOLOGY; FAMILY STUDY; GENE MAPPING; GENE MUTATION; GENOTYPE; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR GENETICS; PHENOTYPE; SHORT SURVEY;

CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; JAPAN; MOLECULAR BIOLOGY; MUTATION, MISSENSE; NEOPLASM PROTEINS; POLYMERASE CHAIN REACTION; TRANSFORMING GROWTH FACTOR BETA;

EID: 0034884110     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380170041     Document Type: Short Survey

References (36)

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4. A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities
5. Six different mutations of TGFBI (βig-h3, keratoepithelin) gene found in Japanese corneal dystrophies
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36. A kerato-epithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA