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SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases
Hereditary cerebellar ataxias and hereditary spastic paraplegias are clinically and genetically heterogeneous and often overlapping neurological disorders. Mutations in SPG7 cause the autosomal recessive spastic paraplegia type 7 (SPG7), but recent studies indicate that they are also one of the most...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Eur J Hum Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5070891/ https://ncbi.nlm.nih.gov/pubmed/26626314 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.240 |
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