COS7 GlyT2 variants associated with hyperekplexia

ABSTRACT: Multiplexed LC-MS/MS analysis of heterologous cells expressing a new GlyT2 variant found in an infantile patient diagnosed with hyperekplexia.

INSTRUMENT(S):

ORGANISM(S): Chlorocebus Sabaeus

TISSUE(S): Fibroblast, Kidney

DISEASE(S): Hyperekplexia

SUBMITTER: Emilio Camafeita  

LAB HEAD: Jesús Vázquez

PROVIDER: PXD061845 | Pride | 2025-08-04

REPOSITORIES: Pride