Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

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Amaral O, Pinto E, Fortuna M, Lacerda L, Sa Miranda MC

Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

Hum Mutat. 1996;8(3):280-1.

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8889591 [ View in PubMed
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Polypeptides
NameUniProt ID
GlucosylceramidaseP04062Details