Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations
Author:
Affiliation:
1. Department of Medical Genetics, Special Medical Center, Tehran, Iran.
2. Department of Pediatric Endocrinology, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Publisher
Mary Ann Liebert Inc
Subject
Genetics(clinical),General Medicine
Link
https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2019.0022
Reference38 articles.
1. Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects
2. Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I
3. The natural history of MPS I: global perspectives from the MPS I Registry
4. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
5. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
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1. Effects of gentamicin inducing readthrough premature stop Codons: A study of alpha-L-iduronidase nonsense variants in COS-7 Cells;Biochemical and Biophysical Research Communications;2022-12
2. Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion);Human Mutation;2022-02-03
3. 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
4. Epidemiology of Mucopolysaccharidoses Update;Diagnostics;2021-02-10
5. Dysostosis Multiplex in Human Mucopolysaccharidosis Type 1 H and in Animal Models of the Disease;PEDIATR ENDOCR REV P;2020
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