- Tytuł :
- Some pathogenic SETX variants are partially conserved during evolution.
- Autorzy :
- Źródło :
- Gene [Gene] 2021 Mar 01; Vol. 771, pp. 145360. Date of Electronic Publication: 2020 Dec 15.
- Typ publikacji :
- Journal Article
- MeSH Terms :
-
Mutation ,Missense *
Amyotrophic Lateral Sclerosis/*genetics
DNA Helicases/*genetics
Multifunctional Enzymes/*genetics
RNA Helicases/*genetics
Spinocerebellar Ataxias/*congenital
Adolescent ; DNA Helicases/chemistry ; Evolution, Molecular ; Female ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Multifunctional Enzymes/chemistry ; Pedigree ; Protein Domains ; RNA Helicases/chemistry ; Sequence Analysis, DNA ; Spinocerebellar Ataxias/genetics ; Young Adult - SCR Disease Name :
- Spinocerebellar ataxia, autosomal recessive 1
-
Czasopismo naukowe