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AB092. A novel variant c.1506G>C at exon 9 of iduronate 2-sulfatase gene in mucopolysaccharidosis type II Indonesian child
BACKGROUND: Mucopolysaccharidosis type II is one of the lysosomal storage diseases caused by the absence or malfunctioning of iduronate 2-sulfatase (IDS) enzyme in the lysosome due to alteration of IDS gene. This case report aimed to demonstrate our first MPS type II patient which tested for genetic...
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| Pubblicato in: | Ann Transl Med |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
AME Publishing Company
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5641703/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s092 |
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