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Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.

著者 Kang L , Wang Y , Gao X , Qiu W , Ye J , Han L , Gu X , Zhang H
Brain Dev.2018 Jun 19 ; ():.
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Gaucher disease (GD) is one of the most common lysosomal storage diseases resulting from a deficiency of glucocerebrosidase. Three main types have been described, with type 2 being the most rare and severe form. Here we investigated the clinical symptoms and mutation spectrum in 20 unrelated type 2 GD patients.
PMID: 29934114 [PubMed - as supplied by publisher]
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