Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree-Reference-Cited by-同舟云学术

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Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree

Published:2019-11-23 Issue:1 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Zhou Yong‐An¹,Li Ping²^ORCID,Zhang Yanping²,Xiong Qiuhong²^ORCID,Li Chao¹^ORCID,Zhao Zhonghua²,Wang Yuxian³,Xiao Han²

Affiliation:

1. Bluttransfusion The Second Hospital Shanxi Medical University Shanxi Taiyuan China

2. Institutes of Biomedical Sciences Shanxi University Taiyuan China

3. Department of Obstetrics and Gynecology The First Hospital Shanxi Medical University Taiyuan China

Funder

Natural Science Foundation of Shanxi Province

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1058

Reference19 articles.

1. The natural history of MPS I: global perspectives from the MPS I Registry

2. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

3. Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase

4. Identification and characterization of a novel homozygous deletion in the α-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)

5. Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of a novel mutation of Alpha-L-iduronidase gene in Tunisian families;2024-05-08

2. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review;International Journal of Molecular Sciences;2023-05-11

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