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Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
J Med Genet. 1998 Nov;35(11):910-4. doi: 10.1136/jmg.35.11.910.
J Med Genet. 1998.
PMID: 9832037
Free PMC article.
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.
Mangas M, Nogueira C, Prata MJ, Lacerda L, Coll MJ, Soares G, Ribeiro G, Amaral O, Ferreira C, Alves C, Coutinho MF, Alves S.
Mangas M, et al.
Clin Genet. 2008 Mar;73(3):251-6. doi: 10.1111/j.1399-0004.2007.00951.x. Epub 2008 Jan 23.
Clin Genet. 2008.
PMID: 18218046
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