No pathogenic mutations identified in the TGFBI gene in polymorphic corneal amyloid deposition

Cornea

Volumn 25, Issue 4, 2006, Pages 413-415

  Aldave, Anthony J ^a,c   Rayner, Sylvia A ^a   King, Julie A ^a   Salem, Andrew K ^a   Prechanond, Apiradi ^a   Hashida, Setsuko ^a   Affeldt, John C ^b   Meallet, Mario A ^b   Glasgow, Ben J ^a   Small, Kent W ^a   Yellore, Vivek S ^a  

^a UCLA MEDICAL CENTER   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c JULES STEIN EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMYLOID; ASPARAGINE; ASPARTIC ACID; GENOMIC DNA; LEUCINE; PHENYLALANINE; TRANSFORMING GROWTH FACTOR BETA1; VALINE; BETAIG H3 PROTEIN; BETAIG-H3 PROTEIN; SCLEROPROTEIN; TRANSFORMING GROWTH FACTOR BETA;

ADULT; AGED; AMINO ACID SUBSTITUTION; AMYLOIDOSIS; ARTICLE; CHEEK MUCOSA; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA EDEMA; CORNEA OPACITY; CORNEA STROMA; CORNEA TRANSPLANTATION; DNA POLYMORPHISM; EXON; EYE COLOR; EYE PHOTOGRAPHY; FEMALE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE ISOLATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; ILLUMINATION; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; SIBLING; SLIT LAMP; CASE REPORT; CORNEA DISEASE; FAMILIAL AMYLOIDOSIS; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; POLYMERASE CHAIN REACTION;

AGED; AGED, 80 AND OVER; AMYLOID; AMYLOIDOSIS, FAMILIAL; CORNEAL DISEASES; CORNEAL STROMA; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; TRANSFORMING GROWTH FACTOR BETA;

EID: 33745011616     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ico.0000225260.41594.4a     Document Type: Article

References (7)

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6. Warren JF, Abbott RL, Yoon MK, et al. A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. Am J Ophthalmol. 2003;136:872-878.
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