Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family

Investigative Ophthalmology and Visual Science

Volumn 45, Issue 5, 2004, Pages 1382-1388

  Klintworth, Gordon K ^a   Bao, Wenjun ^a   Afshari, Natalie A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA; AMYLOID; BETAIG H3 PROTEIN; BETAIG-H3 PROTEIN; SCLEROPROTEIN;

AMINO ACID SUBSTITUTION; AMYLOIDOSIS; ARTICLE; BIGH3 GENE; BIOMICROSCOPY; C1637A GENE; C1652A GENE; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CORNEA DYSTROPHY; CORNEA LATTICE DYSTROPHY; CORNEA STROMA; EXON; FAMILIAL DISEASE; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; IN VIVO STUDY; MALE; OPTICAL COHERENCE TOMOGRAPHY; PENETRATING KERATOPLASTY; PRIORITY JOURNAL; PROTEIN ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SLIT LAMP; TGFBI GENE; ADULT; AGED; CONGENITAL CORNEA DYSTROPHY; GENETICS; METABOLISM; MIDDLE AGED; ONSET AGE; PATHOLOGY; PEDIGREE; POINT MUTATION;

ADULT; AGE OF ONSET; AGED; AMINO ACID SUBSTITUTION; AMYLOID; AMYLOIDOSIS; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL STROMA; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; MALE; MICROSCOPY, CONFOCAL; MIDDLE AGED; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TOMOGRAPHY, OPTICAL COHERENCE; TRANSFORMING GROWTH FACTOR BETA;

EID: 2442650583     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.03-1228     Document Type: Article

References (42)

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