Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI-Reference-Cited by-同舟云学术

Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI

Published:2015 Issue:4 Volume:235 Page:267-273
ISSN:0040-8727
Container-title:The Tohoku Journal of Experimental Medicine
language:en
Short-container-title:Tohoku J. Exp. Med.

Author:

Lin Wei-De¹²,Ke Yu-Yuan³,Chou I-Ching⁴⁵,Wang Chung-Hsing⁶⁵,Tsai Fuu-Jen⁷⁸⁹⁵

Affiliation:

1. School of Post Baccalaureate Chinese Medicine, China Medical University

2. Department of Medical Research, China Medical University Hospital

3. Department of Pediatrics, Taichung Veterans General Hospital

4. Graduate Institute of Integrated Medicine, China Medical University

5. Department of Pediatrics, China Medical University Hospital

6. School of Medicine, China Medical University

7. Department of Health and Nutrition Biotechnology, Asia University

8. School of Chinese Medicine, China Medical University

9. Department of Medical Genetics, China Medical University Hospital

Publisher

Tohoku University Medical Press

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

https://www.jstage.jst.go.jp/article/tjem/235/4/235_267/_pdf

Reference27 articles.

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2. Bond, C.S., Clements, P.R., Ashby, S.J., Collyer, C.A., Harrop, S.J., Hopwood, J.J. & Guss, J.M. (1997) Structure of a human lysosomal sulfatase. Structure, 5, 277-289.

3. Brooks, D.A., Gibson, G.J., Karageorgos, L., Hein, L.K., Robertson, E.F. & Hopwood, J.J. (2005) An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum. Mol. Genet. Metab., 85, 236-238.

4. Ceulemans, S., van der Ven, K. & Del-Favero, J. (2012) Targeted screening and validation of copy number variations. Methods Mol. Biol., 838, 311-328.

5. Costa-Motta, F.M., Acosta, A.X., Abé-Sandes, K., Bender, F., Schwartz, I.V., Giugliani, R. & Leistner-Segal, S. (2011) Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil. Mol. Genet. Metab., 104, 603-607.

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