Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Oegema, Renske

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