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
Authors: Karolina Pierzynowska Arkadiusz Mański Monika Limanówka Jolanta Wierzba Lidia Gaffke Paulina Anikiej Grzegorz Węgrzyn
Published in: Molecular Genetic and Genomic Medicine
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology; Medicine
SJR best quartile: Q3