Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.

Abstract

PURPOSE To identify the genetic defect in a German family with Usher syndrome (USH) and linkage to the USH3A locus. METHODS DNA samples of five family members (both parents and the three patients) were genotyped with polymorphic microsatellite markers specific for eight USH genes. Three affected family members underwent detailed ocular and audiologic… (More)

Topics

Cite this paper

@article{Ebermann2007TwoTU, title={Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.}, author={Inga Ebermann and Robert Wilke and Thomas Lauhoff and Dirk L{\"{u}bben and Eberhart Zrenner and Hanno J Bolz}, journal={Molecular vision}, year={2007}, volume={13}, pages={1539-47} }