First patient with hereditary spastic paraplegia type 8 in Poland
Key Clinical Message SPG 8 is an autosomal dominant HSP, which phenotype results from KIAA0196 gene mutations. There have been twelve types of KIAA0196 mutations described in HGMD, which are located in conservative region of gene encoding strumpellin. We describe first patient in Poland, simultaneou...
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| Principais autores: | , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Wiley
2017-09-01
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| Serija: | Clinical Case Reports |
| Teme: | |
| Online dostop: | https://doi.org/10.1002/ccr3.1080 |
| Oznake: |
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