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Title
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
Authors
Beesley, C E; Young, E P; Vellodi, A; Winchester, B G
Publication
Journal of Medical Genetics, 1998, Vol 35, Issue 11, p910