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Gaucher disease
- ... a disorder that resembles a severe form of Gaucher disease. Signs and symptoms of this condition include neurological ... as it does in the classic form of Gaucher disease. A few PSAP gene mutations have also been ...
- ... GBA1 gene have been identified in people with Gaucher disease, a disorder with varied features that affect many ... Most of the GBA1 gene variants responsible for Gaucher disease change single protein building blocks (amino acids) in ...
