Načítá se...

GNE genotype explains 20% of phenotypic variability in GNE myopathy

OBJECTIVE: To test the hypothesis that common GNE mutations influence disease severity; using statistical analysis of patient cohorts from different countries. METHODS: Systematic literature review identified 11 articles reporting 759 patients. GNE registry data were used as a second data set. The r...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Neurol Genet
Hlavní autoři: Pogoryelova, Oksana, Wilson, Ian J., Mansbach, Hank, Argov, Zohar, Nishino, Ichizo, Lochmüller, Hanns
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6384023/
https://ncbi.nlm.nih.gov/pubmed/30842975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000308
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!