TY  - GEN
AU  - Miraglia Del Giudice,E
AU  - Coppola,G
AU  - Bellini,G
AU  - Ledaal,P
AU  - Hertz,J M
AU  - Pascotto,A
TI  - A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia
SN  - 1468-6244
PY  - 2003///0805
KW  - DNA Mutational Analysis
KW  - Female
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - genetics
KW  - Protein Structure, Tertiary
KW  - Receptors, Glycine
KW  - chemistry
KW  - Reflex, Startle
KW  - physiology
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1136/jmg.40.5.e71
ER  -