Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families

Ophthalmic Research

Volumn 40, Issue 2, 2008, Pages 105-108

  Liskova, Petra ^a,c   Klintworth, Gordon K ^e   Bowling, Brandy L ^e   Filipec, Martin ^c,d   Jirsova, Katerina ^c   Tuft, Stephen J ^b   Bhattacharya, Shomi S ^a   Hardcastle, Alison J ^a   Ebenezer, Neil D ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c CHARLES UNIVERSITY   (Czech Republic)

^d Eye Clinic Lexum   (Czech Republic)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Corneal dystrophy; Hotspot; TGFBI gene, mutation

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CORNEA DYSTROPHY; CORNEA OPACITY; CZECH REPUBLIC; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; KERATECTOMY; KERATOPLASTY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TGFBI GENE;

EID: 39749102968     PISSN: 00303747     EISSN: None     Source Type: Journal    
DOI: 10.1159/000115325     Document Type: Article

References (10)