Načítá se...
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...
Uloženo v:
| Vydáno v: | Clin Case Rep |
|---|---|
| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2017
|
| Témata: | |
| On-line přístup: | 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 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|