Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/9/9/1283/9815214/091283.pdf
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3. The deleterious variants of N-acetylgalactosamine-6-sulfatase (GalN6S) enzyme trigger Morquio a syndrome by disrupting protein foldings;Journal of Biomolecular Structure and Dynamics;2023-05-24
4. Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile;Molecular Syndromology;2023
5. Genetics of Mucopolysaccharidosis Type IV (Morquio Disorder) in Patients from Azerbaijan;Ukraïnsʹkij žurnal medicini, bìologìï ta sportu;2022-07-02
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