Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

By K. Hruska, M. Lamarca, C. Scott, E. Sidransky. Human Mutation, 2008

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A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments (2017, background): “More than 300 GBA mutations have been described in the GBA1 gene [2].”
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. (2009, background): “These processes provide an explanation for the high number of complex recombinant alleles that have been detected in Gaucher's disease (Hruska et al., 2008).”
Human and chimpanzee Luteinizing hormone/ Chorionic Gonadotropin beta (LHB/CGB) gene clusters: diversity and divergence of young duplicated genes (2009, background): “Some examples of such diseases are the Gaucher disease (conversion from GBAP to GBA)(reviewed in (Hruska et al. 2008)), Shwachman- 6 22 Bodian-Diamond syndrome (conversion from SBDSP to SBDS)(Nicolis et al. 2005), von Willebrand disease (conversion from VWFP to VWF)(Eikenboom et al. 1994),…”
Genetics of Parkinson's disease. (2012, background): “Gaucher disease is inherited autosomal recessively and, to date, about 300 missense, nonsense, and frame-shift disease-causing mutations have been identified (Hruska et al. 2008).”