Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) genes - Lessons for corneal amyloidogenesis

Human Mutation

Volumn 14, Issue 2, 1999, Pages 126-132

  Stewart, Helen S ^a,c   Ridgway, Alan E ^b   Dixon, Michael J ^c   Bonshek, Richard ^b,c   Parveen, Rahat ^a   Black, Graeme ^a,b  

^a ST MARY S HOSPITAL   (United Kingdom)

^b MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

BIGH3; CDL1; Granular corneal dystrophy; LCD; Mutation; TGFBI

Indexed keywords

AMYLOID;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 5Q; CLINICAL ARTICLE; CORNEA DYSTROPHY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032799821     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W     Document Type: Article

References (20)

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