Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.
Amaral O, Pinto E, Fortuna M, Lacerda L, Sá Miranda MC.
Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes, Oporto, Portugal.
Publication Types:
PMID: 8889591 [PubMed - indexed for MEDLINE]