Another Novel Missense Mutation in ARSB Gene in Iran
Another Novel Missense Mutation in ARSB Gene in Iran
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Publisher
Iran: Tehran University of Medical Sciences
Journal title
Language
English
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Publication information
Publisher
Iran: Tehran University of Medical Sciences
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Scope and Contents
Contents
Mucopolysaccharidosis VI (MPS-VI) is an infrequent autosomal recessive disorder caused by mutations in ARSB gene and deficiency in lysosomal enzyyme ARSB activities subsequently. This enzyme is essential for the breaking of glycosaminoglycans (GAGs) such as dermatan sulfate and chondroitin sulfate. ARSB dysfunction results in imperfect breakdown of...
Alternative Titles
Full title
Another Novel Missense Mutation in ARSB Gene in Iran
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Record Identifier
TN_cdi_proquest_miscellaneous_1973019892
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1973019892
Other Identifiers
ISSN
0044-6025
E-ISSN
1735-9694
