A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor β-induced (TGFBI) gene

Ophthalmology

Volumn 112, Issue 6, 2005, Pages 1017-1022

  Aldave, Anthony J ^a   Rayner, Sylvia A ^a   King, Julie A ^a   Affeldt, John A ^b   Yellore, Vivek S ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

^b LAC USC MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; TRANSFORMING GROWTH FACTOR BETA; BETAIG H3 PROTEIN; BETAIG-H3 PROTEIN; SCLEROPROTEIN;

ADULT; ARTICLE; BOWMAN MEMBRANE; CHEEK MUCOSA; CHROMOSOME; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA OPACITY; DNA ISOLATION; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; HUMAN; MALE; MEDICAL DOCUMENTATION; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; PHOTOGRAPHY; PRIORITY JOURNAL; STATISTICAL SIGNIFICANCE; AGED; BASEMENT MEMBRANE; CASE REPORT; CHILD; CONGENITAL CORNEA DYSTROPHY; CORNEA STROMA; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOLOGY; POLYMERASE CHAIN REACTION; VISUAL ACUITY;

ADULT; AGED; BASEMENT MEMBRANE; CHILD; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL STROMA; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENE AMPLIFICATION; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; TRANSFORMING GROWTH FACTOR BETA; VISUAL ACUITY;

EID: 20144385538     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2004.12.044     Document Type: Article

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