Structural study on mutant α-l-iduronidases: insight into mucopolysaccharidosis type I
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg200860.pdf
Reference37 articles.
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2. Brooks DA (1993) Review: the immunochemical analysis of enzyme from mucopolysaccharidoses patients. J Inher Metab Dis 16:3–15
3. Brooks DA, Fabrega S, Hein LK, Parkinson EJ, Durand P, Yogalingam G, Matte U, Giugliani R, Dasvarma A, Eslahpazire J, Henrissat B, Mornon JP, Hopwood JJ, Lehn P (2001) Glycosidase active site mutations in human α-l-iduronidase. Glycobiology 11:741–750
4. Brooks DA (2002) α-l-Iduronidase and enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Biol Ther 2:967–976
5. Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, Schwinger E, Hopwood JJ, Scott HS, Gal A (1994a) Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-l-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet 3:861–866
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