Different phenotypes of lattice corneal dystrophy type I in patients with 417c>T (R124C) and 1762A>G (H572R) mutations in Tgfbi (BIGH3)

Molecular Vision

Volumn 16, Issue , 2010, Pages 1601-1609

  Romero, Pablo ^a,b   Moraga, Mauricio ^c   Herrera, Luisa ^c  

^a HOSPITAL CLÍNICO UNIVERSIDAD DE CHILE   (Chile)

^b UNIVERSITY OF CHILE   (Chile)

^c UNIVERSITY OF CHILE   (Chile)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; CYTIDINE; GENOMIC DNA; GUANIDINE; THYMIDINE; TRANSFORMING GROWTH FACTOR BETA1;

ADULT; AGED; ARTICLE; CHILE; CLINICAL ARTICLE; CORNEA DYSTROPHY; CORNEA OPACITY; DISEASE COURSE; DNA ISOLATION; EXON; FEMALE; GENE LOCATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; KERATOPLASTY; LATTICE CORNEAL DYSTROPHY TYPE 1; LEUKOCYTE; MALE; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; OPHTHALMOSCOPY; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SLIT LAMP; TONOMETRY; VISUAL ACUITY;

ADULT; AGED, 80 AND OVER; BASE SEQUENCE; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FAMILY; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TRANSFORMING GROWTH FACTOR BETA; YOUNG ADULT;

EID: 77956956481     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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