TY  - GEN
AU  - Milenkovic,Ivan
AU  - Zimprich,Alexander
AU  - Gencik,Martin
AU  - Platho-Elwischger,Kirsten
AU  - Seidel,Stefan
TI  - A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia
SN  - 1435-1463
PY  - 2019///1114
KW  - Codon, Nonsense
KW  - Female
KW  - Humans
KW  - Hyperekplexia
KW  - genetics
KW  - Pedigree
KW  - Phenotype
KW  - Receptors, Glycine
KW  - Reflex, Startle
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s00702-018-1924-y
ER  -