Ontology highlight
ABSTRACT:
SUBMITTER: Korvatska E
PROVIDER: S-EPMC1376896 | biostudies-other | 1998 Feb
REPOSITORIES: biostudies-other
Korvatska E E Munier F L FL Djemaï A A Wang M X MX Frueh B B Chiou A G AG Uffer S S Ballestrazzi E E Braunstein R E RE Forster R K RK Culbertson W W WW Boman H H Zografos L L Schorderet D F DF
American journal of human genetics 19980201 2
Mutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant diseases of the human cornea: granular (Groenouw type I), Reis-Bücklers, lattice type I, and Avellino corneal dystrophies. All four diseases are characterized by both progressive accumulation of corneal deposits and eventual loss of vision. We have identified a specific recurrent missense mutation for each type of dystrophy, in 10 independently ascertained families. Genotype analysis with microsatellite markers ...[more]