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- Q2310947 subject Q6584894.
- Q2310947 subject Q7215462.
- Q2310947 abstract "Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive. SCA13 is caused by mutations in KCNC3, a gene encoding a voltage-gated potassium channel KV3.3. There are two known mutations in this gene causative for SCA13. Unlike many other types of SCA, these are not polyglutamine expansions but, rather, point mutations resulting in channels with no current or altered kinetics.".
- Q2310947 wikiPageExternalLink br.fcgi?book=gene&part=sca13.
- Q2310947 wikiPageWikiLink Q11269508.
- Q2310947 wikiPageWikiLink Q1570272.
- Q2310947 wikiPageWikiLink Q18028144.
- Q2310947 wikiPageWikiLink Q183560.
- Q2310947 wikiPageWikiLink Q194277.
- Q2310947 wikiPageWikiLink Q213373.
- Q2310947 wikiPageWikiLink Q220989.
- Q2310947 wikiPageWikiLink Q225957.
- Q2310947 wikiPageWikiLink Q41571.
- Q2310947 wikiPageWikiLink Q43054.
- Q2310947 wikiPageWikiLink Q6531938.
- Q2310947 wikiPageWikiLink Q6584894.
- Q2310947 wikiPageWikiLink Q7215462.
- Q2310947 wikiPageWikiLink Q899726.
- Q2310947 comment "Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive. SCA13 is caused by mutations in KCNC3, a gene encoding a voltage-gated potassium channel KV3.3.".
- Q2310947 label "Spinocerebellar ataxia type-13".