Figure 1.

Studies in Family no. 1. (a) Chromatograms showing GBA1 sequence including the proband, mother and father. Each individual genotype has been labeled. (b) Western blot probed with antibody to GCase performed on total protein extracted from the proband, mother and two WT controls fibroblast cell lines. GCase levels were compared with β-actin. (c) GCase activity measured in fibroblast extracts from the proband, mother and two WT controls.