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

Six autosomal dominant corneal dystrophies are caussed by mutations in the TGFBI (BIGH3) gene on chromosome 5q31: three types of lattice corneal dystrophy (LCD), including type I and type IIIA, granular, Avellino (ACD), and Reis‐Bucklers. Initially an exact genotype‐phenotype correlation was reporte...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human mutation 1999, Vol.14 (2), p.126-132
Hauptverfasser:	Stewart, Helen S., Ridgway, Alan E., Dixon, Michael J., Bonshek, Richard, Parveen, Rahat, Black, Graeme
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyloid - metabolism BIGH3 CDL1 Chromosomes, Human, Pair 5 - genetics Cornea - metabolism Cornea - pathology Corneal Dystrophies, Hereditary - classification Corneal Dystrophies, Hereditary - genetics DNA Mutational Analysis Female Genotype granular corneal dystrophy Histocytochemistry Humans LCD Male Middle Aged mutation Mutation - genetics Phenotype Polymorphism, Single-Stranded Conformational TGFBI Transforming Growth Factor beta - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!