Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene

por Pierzynowska, Karolina, Mański, Arkadiusz, Limanówka, Monika, Wierzba, Jolanta, Gaffke, Lidia, Anikiej, Paulina, Węgrzyn, Grzegorz
Publicado 2020