TGFBI gene mutations in coraeal dystrophies

Human Mutation

Volumn 27, Issue 7, 2006, Pages 615-625

  Kannabiran, Chitra ^a   Klintworth, Gordon K ^b  

^a L V PRASAD EYE INSTITUTE   (India)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

BIGH3; Granular corneal dystrophy; Lattice corneal dystrophy; Mutations; TGFBI

Indexed keywords

AMINO ACID; ARGININE; GENE PRODUCT; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA INDUCED PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 5Q; CLINICAL ARTICLE; CLINICAL FEATURE; CORNEA DYSTROPHY; CORNEA LATTICE DYSTROPHY; CORNEA STROMA; DIFFERENTIATION; GENE; GENE MUTATION; GRANULAR CORNEAL DYSTROPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; TGFBI GENE; VISUAL IMPAIRMENT;

CORNEAL DYSTROPHIES, HEREDITARY; EXTRACELLULAR MATRIX PROTEINS; HUMANS; MUTATION, MISSENSE; PHENOTYPE; TRANSFORMING GROWTH FACTOR BETA;

EID: 33745728355     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20334     Document Type: Review

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