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SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia (HSP)
OBJECTIVE: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common form of complex HSP. The genetic lesion underlying ARHSP-TCC was localized to chromosome 15q13-q15 and given the designation SPG11. Recently the gene encoding spatacsin (KIAA1840), has be...
Gorde:
| Egile Nagusiak: | , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2008
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2730021/ https://ncbi.nlm.nih.gov/pubmed/18337587 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000294327.66106.3d |
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