nourisson (1) monde (1) spectacle (1) région (1) protéine (1) système nerveux (1) mutation (1) acide aminé (1) gène (1) famille (1) ADN (1) enfant (1) adulte (1) Development (1) Deletion (1) Methods (1) Serine (1) Cases (1) Abnormalities (1) Phenotype (1) Transcription (1) Proline (1) Patients (1) Nystagmus (1) Nonsense mutation (1) Nervous system (1) Human beings (1) Leucine (1) Glycine (1) Families (1)