Author:
Beesley C. E.,Jackson M.,Young E. P.,Vellodi A.,Winchester B. G.
Subject
Genetics(clinical),Genetics
Reference30 articles.
1. Antonarakis SE, Krawczak M, Cooper DN (2001) The nature and mechanisms of human gene mutation. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 343–378.
2. Ausseil J, Loredo-Osti JC, Verner A, et al (2004) Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. J Med Genet 41: 941–945.
3. Beesley CE, Young EP, Vellodi A, Winchester BG (1998) Identification of 12 novel mutations in the α-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). J Med Genet 35: 910–914.
4. Beesley C, Moraitou M, Winchester B, Schulpis K, Dimitriou E, Michelakakis H (2004) Sanfilippo B syndrome: molecular defects in Greek patients. Clin Genet 65: 143–149.
5. Bunge S, Knigge A, Steglich C, et al (1999) Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations. J Med Genet 36: 28–31.
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