A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene

Archives of Ophthalmology

Volumn 126, Issue 3, 2008, Pages 371-377

  Aldave, Anthony J ^a   Yellore, Vivek S ^a   Sonmez, Baris ^a   Bourla, Nirit ^a   Salem, Andrew K ^a   Khan, M Ali ^a   Rayner, Sylvia A ^a   Glasgow, Ben J ^a,b  

^a JULES STEIN EYE INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONGO RED; LYSINE; METHIONINE; TRANSFORMING GROWTH FACTOR BETA1;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA EROSION; CORNEA TRANSPLANTATION; EXON; EYE EXAMINATION; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SCREENING; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LENS IMPLANT; MALE; MICROSCOPY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SLIT LAMP; TREATMENT OUTCOME; VISUAL ACUITY;

ADULT; AGED; AMYLOID; AMYLOIDOSIS; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL STROMA; DNA MUTATIONAL ANALYSIS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENE AMPLIFICATION; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; TRANSFORMING GROWTH FACTOR BETA; VARIATION (GENETICS);

EID: 40849119761     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.126.3.371     Document Type: Article

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