טוען...
Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia
The SCA6 mutation, a small expansion of a CAG repeat in a calcium channel gene CACNA1A, was identified in three pedigrees. Point mutations in other parts of the gene CACNA1A were excluded and new clinical features of SCA6 reported—namely, central positional nystagmus and episodic ataxia responsive t...
שמור ב:
| Main Authors: | , , , , |
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| פורמט: | Artigo |
| שפה: | English |
| יצא לאור: |
BMJ Group
1998
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2170265/ https://ncbi.nlm.nih.gov/pubmed/9771787 |
| תגים: |
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