Septuagenarian's Phenotype Leads to Ascertainment of Familial MYOCGene Mutation

Autor: Lim, Pauline, Lichter, Paul R., Higashi, Misao, Downs, Catherine A., Richards, Julia E.
Zdroj: Journal of Glaucoma; April 2003, Vol. 12 Issue: 2 p98-103, 6p
Abstrakt: To report a family with a myocilin (MYOC) gene mutation ascertained on the basis of the phenotype of the 71-year-old proband with juvenile-onset primary open-angle glaucoma (JOAG).
Databáze: Supplemental Index