학술논문

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma.
Document Type
Article
Source
Nature Genetics. Aug98, Vol. 19 Issue 4, p319. 3p.
Subject
*GLAUCOMA
*GENETICS
Language
ISSN
1061-4036
Abstract
Studies the incidence of autosomal dominant primary open-angle glaucoma in Quebec. Genotypic and phenotypic analysis of a pedigree; Presence of missense mutation; Penetrance rate in various branches of the pedigree; Probability of unaffected carriers of the mutation.