Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS

This study illustrates the potential of genomics and complementary, high-resolution proteomics analyses to study the pathogenicity of rare gene variants.

Source: Human Molecular Genetics - February 23, 2016 Category: Genetics & Stem Cells Authors: Bartram, M. P., Habbig, S., Pahmeyer, C., Höhne, M., Weber, L. T., Thiele, H., Altmüller, J., Kottoor, N., Wenzel, A., Krueger, M., Schermer, B., Benzing, T., Rinschen, M. M., Beck, B. B. Tags: ARTICLES Source Type: research