A novel compound heterozygote mutation in the ARSB gene in a patient with Maroteaux-Lamy syndrome and its Insilico evaluation
Author:
Funder
Iran University of medical sciences
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
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1. Elucidating the functional impact of G137V and G144R variants in Maroteaux Lamy’s Syndrome by Molecular Dynamics Simulation;Molecular Diversity;2023-07-17
2. Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion);Human Mutation;2022-02-03
3. Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI;Molecular Biology Reports;2019-04-13
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