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Genetic Variants Associated with Episodic Ataxia in Korea
Episodic ataxia (EA) is a rare neurological condition characterized by recurrent spells of truncal ataxia and incoordination. Five genes (KCNA1, CACNA1A, CACNB4, SLC1A3, and UBR4) have been linked to EA. Despite extensive efforts to genetically diagnose EA, many patients remain still undiagnosed. Wh...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Sci Rep |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group UK
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5653837/ https://ncbi.nlm.nih.gov/pubmed/29062094 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-14254-7 |
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