Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.

Abstract excerpt

Correlation between genotype and phenotype in Gaucher disease is limited. It is known that the most common mutation N370S is protective of neurological involvement, but for the V394L mutation, described as the fifth most common among Ashkenazi Jews, little data are available. This study reports all known patients from a large referral clinic and from the international registry with Gaucher disease who are...

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