Equipe Friant Publication KARS

Équipe Friant

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.

Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H.

Hum Mutat. 2019 May 22. doi: 10.1002/humu.23799.