ArticleMolecular genetics & genomic medicine2020

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.

Karolina Pierzynowska et al.PubMed ↗Full text ↗Publisher ↗

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