Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I...
Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree
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Author / Creator
Zhou, Yong‐An , Li, Ping , Zhang, Yanping , Xiong, Qiuhong , Li, Chao , Zhao, Zhonghua , Wang, Yuxian and Xiao, Han
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
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Scope and Contents
Contents
Background
Mucopolysaccharidosis type I (MPS I) is a rare autosomal storage disorder resulting from the defective alpha‐L‐iduronidase (encoded by IDUA) enzyme activity and accumulation of glycosaminoglycans (GAGs) in lysosomes. So far, more than 100 IDUA causative mutations have been identified leading to three MPS I phenotypic subtypes: Hurler...
Alternative Titles
Full title
Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree
Authors, Artists and Contributors
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_f4702b505e534d3d91bfa7fe4981e1fd
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f4702b505e534d3d91bfa7fe4981e1fd
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1058
