Caricamento...
First patient with hereditary spastic paraplegia type 8 in Poland
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, simultaneously second in the wor...
Salvato in:
| Pubblicato in: | Clin Case Rep |
|---|---|
| Autori principali: | , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2017
|
| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5582219/ https://ncbi.nlm.nih.gov/pubmed/28878906 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1080 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|