2 New NAGLU Mutations Possibly Linked to Sanfilippo Type B

2 New NAGLU Mutations Possibly Linked to Sanfilippo Type B

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2 New NAGLU Mutations Possibly Linked to Sanfilippo Type B

Two never-before-reported mutations were found in Sanfilippo syndrome type B patients, with one likely to be disease-causing, a recent study reported. How the other identified mutation relates to this disease is not yet known, its researchers said. The study, “Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations,” was published in Molecular Genetics and Metabolism Reports. Sanfilippo syndrome type B is one of the four types of Sanfilippo…

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