Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the α-L-iduronidase gene
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics (clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/2/8/1311/2234361/2-8-1311.pdf
Cited by 18 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology;Frontiers in Molecular Biosciences;2022-01-24
2. Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants;Frontiers in Molecular Biosciences;2021-10-21
3. Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders;The Journal of Molecular Diagnostics;2020-04
4. Structural and clinical implications of amino acid substitutions in α-l-iduronidase: Insight into the basis of mucopolysaccharidosis type I;Molecular Genetics and Metabolism;2014-02
5. Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis;JIMD Reports;2014
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