Mutation identification and characterization of a Taiwanese patient with fucosidosis-Reference-Cited by-同舟云学术

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Mutation identification and characterization of a Taiwanese patient with fucosidosis

Published:2007-04-11 Issue:6 Volume:52 Page:553-556
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Lin Shuan-Pei,Chang Jui-Hung,de la Cadena Maria Paez,Chang Ting-Fang,Lee-Chen Guey-Jen

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg200776.pdf

Reference21 articles.

1. Akagi M, Inui K, Nishigaki T, Muramatsu T, Kokubu C, Fu L, Fukushima H, Yanagihara I, Tsukamoto H, Kurahashi H, Okada S (1999) Mutation analysis of a Japanese patient with fucosidosis. J Hum Genet 44:323–326

2. Chang JH, Lin SP, Lin SC, Tseng KL, Li CL, Chuang CK, Lee-Chen GJ (2005) Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II). Hum Genet 116:160–166

3. Cordero OJ, Merino A, Paez de la Cadena M, Bugia B, Nogueira M, Vinuela JE, Martinez-Zorzano VS, de Carlos A, Rodriguez-Berrocal FJ (2001) Cell surface human alpha-l-fucosidase. Eur J Biochem 268:3321–3331

4. Cragg H, Winchester B, Seo HC, O’Brien J, Swallow D (1994) Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human α-l-fucosidase. J Med Genet 31:659–660

5. Durand P, Borrone C, Della Cella G (1969) Fucosidosis. J Pediatr 75:665–674

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