Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA
Author:
Funder
Qatar University
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry
Link
http://link.springer.com/content/pdf/10.1007/s11011-019-00465-6.pdf
Reference103 articles.
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3. Agrahari AK, Krishna Priya M, Praveen Kumar M, Tayubi IA, Siva R, Prabhu Christopher B, George Priya Doss C, Zayed H (2019) Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis. Comput Biol Med 107:161–171. https://doi.org/10.1016/j.compbiomed.2019.02.014
4. Agrahari AK, ARS K et al (2018a) Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot–Marie-tooth disease: a computational study. J Theor Biol 437:305–317
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