A Hypomorphic Dars1D367Y Model Recapitulates Key Aspects of the Leukodystrophy HBSL
A Hypomorphic Dars1D367Y Model Recapitulates Key Aspects of the Leukodystrophy HBSL
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Lausanne: Frontiers Research Foundation
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Language
English
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Publisher
Lausanne: Frontiers Research Foundation
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Contents
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) is a leukodystrophy caused by missense mutations of the aspartyl-tRNA synthetase-encoding gene
DARS1
. The clinical picture includes the regression of acquired motor milestones, spasticity, ataxia, seizures, nystagmus, and intellectual disabilities. Morpholo...
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Full title
A Hypomorphic Dars1D367Y Model Recapitulates Key Aspects of the Leukodystrophy HBSL
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TN_cdi_doaj_primary_oai_doaj_org_article_2a471b43f5584d4da9624c90395f5e86
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2a471b43f5584d4da9624c90395f5e86
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ISSN
1662-5102
E-ISSN
1662-5102
DOI
10.3389/fncel.2020.625879
