Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree-Reference-Cited by-同舟云学术

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree

Published:2017-09 Issue: Volume:12 Page:76-79
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Azab Belal,Dardas Zain,Hamarsheh Mohannad,Alsalem Mohammad,Kilani Zaid,Kilani Farah,Awidi Abdalla,Jafar Hanan,Amr Sami

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

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3. Mucopolysaccharidosis type I: identification and characterization of mutations affecting alpha-l-iduronidase activity;Lee-Chen;J. Formos. Med. Assoc.,2002

4. Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome;Kim;Orphanet J. Rare Dis.,2015

5. Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms;Chkioua;Diagn. Pathol.,2011

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1. Epidemiology of Mucopolysaccharidoses Update;Diagnostics;2021-02-10

2. Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1;Journal of Pediatric Endocrinology and Metabolism;2019-11-26

3. Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I;Journal of Clinical Laboratory Analysis;2019-08-06