Article
Norrbottnian clinical variant of Gaucher disease in Southern Italy.
Journal of human genetics - 1 Apr 2017
Sestito Simona, Filocamo Mirella, Ceravolo Ferdinando, Falvo Francesca, Grisolia Michele, Moricca Maria Teresa, Cantaffa Renato, Grossi Serena, Strisciuglio Pietro, Concolino Daniela
Abstract excerpt
The Norrbottnian type of Gaucher disease (GD), as described many years ago, is due to a unique neuronopathic variant (c.1448T>G; L444P) that may have appeared during or before the sixteenth century in northern Sweden. It is a well-defined nosological entity with a characteristic course of clinical manifestations. In particular, Norrbottnian patients described in Sweden and Poland seem to share identical clinical...
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