A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous c...
A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course
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Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
An intact and dynamic microtubule cytoskeleton is crucial for the development, differentiation, and maintenance of the mammalian cortex. Variants in a host of structural microtubulin-associated proteins have been identified to cause a wide spectrum of malformations of cortical development and alterations of microtubule dynamics have been recognized...
Alternative Titles
Full title
A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6138752
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6138752
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-018-0204-5
