Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. [electronic resource]
- Human molecular genetics Sep 2015
- 5313-25 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddv250 doi
Alleles Brain--pathology Cell Line Cerebellar Vermis--pathology Cerebellum--pathology Cohort Studies Female Genotype Humans Magnetic Resonance Imaging Male Microtubules--chemistry Models, Molecular Mutation Nervous System Malformations--diagnosis Phenotype Protein Conformation Protein Multimerization Structure-Activity Relationship Tubulin--chemistry