Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. [electronic resource]
Producer: 20160531Description: 5313-25 p. digitalISSN:- 1460-2083
- 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
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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