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Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
BACKGROUND: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a pho...
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| Yayımlandı: | Orphanet J Rare Dis |
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| Asıl Yazarlar: | , , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2017
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5240260/ https://ncbi.nlm.nih.gov/pubmed/28095893 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0556-2 |
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