TY  - GEN
AU  - Tripolszki,Kornélia
AU  - Török,Dóra
AU  - Goudenège,David
AU  - Farkas,Katalin
AU  - Sulák,Adrienn
AU  - Török,Nóra
AU  - Engelhardt,József I
AU  - Klivényi,Péter
AU  - Procaccio,Vincent
AU  - Nagy,Nikoletta
AU  - Széll,Márta
TI  - High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis
SN  - 2162-3279
PY  - 2017///0424
KW  - Aged
KW  - Amyotrophic Lateral Sclerosis
KW  - genetics
KW  - C9orf72 Protein
KW  - DNA Helicases
KW  - Female
KW  - Heterozygote
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Multifunctional Enzymes
KW  - Mutation, Missense
KW  - Phenotype
KW  - Proteins
KW  - RNA Helicases
KW  - RNA-Binding Protein FUS
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/brb3.669
ER  -