Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families
Author:
Funder
National Natural Science Foundation of China
Fujian and Guangdong cooperation projects
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference24 articles.
1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010
2. SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information;Biasini;Nucleic Acids Res.,2014
3. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels;Choi;Bioinformatics,2015
4. A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome;Guo;J Zhejiang Univ Sci B,2007
5. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm;Kumar;Nat. Protoc.,2009
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1. A Child Presenting with Mucopolysaccharidosis;Case Reports in Clinical Medicine;2022
2. Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review;BMC Pediatrics;2021-01-06
3. A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management;Intractable & Rare Diseases Research;2020-02-29
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