Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.

Abstract excerpt

Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients with Sanfilippo syndrome type B from six unrelated families was carried out, and six disease-causing mutations were found. The parents of Patient 2 had a consanguinous marriage, but other families did not have any record of consanguinity. Two families were from Okinawa Island, where more patients with Sanfilippo syndrome were...

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