Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations-Reference-Cited by-同舟云学术

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Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations

Published:2019-06-24 Issue:5 Volume:34 Page:1447-1455
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Shafaat Mehdi,Hashemi Mehrdad,Majd Ahmad,Abiri Maryam,Zeinali Sirous

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s11011-019-00434-z.pdf

Reference51 articles.

1. Abiri, M., Karamzadeh, R., Mojbafan, M., Alaei, M. R., Jodaki, A., Safi, M., . . . Zeinali, S. (2017). In silico analysis of novel mutations in maple syrup urine disease patients from Iran. Metab Brain Dis, 32(1), 105–113. https://doi.org/10.1007/s11011-016-9867-1

2. Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., . . . Sunyaev, S. R. (2010). A method and server for predicting damaging missense mutations. Nat Methods, 7(4), 248–249. https://doi.org/10.1038/nmeth0410-248

3. Atceken, N., Ozgul, R. K., Yucel Yilmaz, D., Tokatli, A., Coskun, T., Sivri, H. S., . . . Karaca, M. (2016). Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I. Turk J Med Sci, 46(2), 404–408. https://doi.org/10.3906/sag-1411-160

4. Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, Fallet S (2014) The natural history of MPS I: global perspectives from the MPS I registry. Genet Med 16(10):759–765. https://doi.org/10.1038/gim.2014.25

5. Beesley CE, Young EP, Vellodi A, Winchester BG (2000) Mutational analysis of Sanfilippo syndrome type a (MPS IIIA): identification of 13 novel mutations. J Med Genet 37(9):704–707

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