Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.
Amaral
O
O
Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes, Oporto, Portugal.
Pinto
E
E
Fortuna
M
M
Lacerda
L
L
Sá Miranda
M C
MC
D000225:Adenine; D003596:Cytosine; D005091:Exons; D005776:Gaucher Disease / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D011174:Portugal / Q000453:epidemiology; D015995:Prevalence
D003596:Cytosine; D005962:Glucosylceramidase; D000225:Adenine