The p.D417N variant of TUBB4A as a possible cause of hereditary spastic paraplegia: a case report
The p.D417N variant of TUBB4A as a possible cause of hereditary spastic paraplegia: a case report
About this item
Full title
Author / Creator
Publisher
Mumbai: Springer Nature B.V
Journal title
Language
English
Formats
Publication information
Publisher
Mumbai: Springer Nature B.V
Subjects
More information
Scope and Contents
Contents
BackgroundTubulins are dimeric proteins expressed in all eukaryotic cells, serving as the fundamental building blocks of microtubule filaments. The TUBB4A gene encodes the protein β-tubulin. Mutations of TUBB4A have been associated with two neurodegenerative diseases with very different clinical characteristics: dystonia type 4 (DYT4) and Hypomyeli...
Alternative Titles
Full title
The p.D417N variant of TUBB4A as a possible cause of hereditary spastic paraplegia: a case report
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_3123173143
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3123173143
Other Identifiers
ISSN
1110-1083
E-ISSN
1687-8329
DOI
10.1186/s41983-024-00905-w
