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Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
BACKGROUND: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients. METHODS: Nine Korean patients from eight unrelated families with GSD Ib were...
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| Yayımlandı: | Ann Lab Med |
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| Asıl Yazarlar: | , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
The Korean Society for Laboratory Medicine
2017
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5339099/ https://ncbi.nlm.nih.gov/pubmed/28224773 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2017.37.3.261 |
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