Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620672
Title:
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
Authors:
Salter, C. G. [et al] inc.; Baple, Emma L.; Crosby, Andrew H.
Abstract:
To identify the genetic cause of disease in 2 previously unreported families with forms of distal hereditary motor neuropathies (dHMNs).
Citation:
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies. 2018, 4 (2):e222 Neurol Genet
Publisher:
Wolters Kluwer
Journal:
Neurology. Genetics
Issue Date:
Apr-2018
URI:
http://hdl.handle.net/11287/620672
DOI:
10.1212/NXG.0000000000000222
PubMed ID:
29582019
Additional Links:
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/29582019/
Note:
This article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.
Type:
Journal Article
Language:
en
ISSN:
2376-7839
Appears in Collections:
Clinical Genetics (Peninsula Genetics); Honorary contracts publications; 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorSalter, C. G. [et al] inc.en
dc.contributor.authorBaple, Emma L.en
dc.contributor.authorCrosby, Andrew H.en
dc.date.accessioned2018-05-03T14:18:46Z-
dc.date.available2018-05-03T14:18:46Z-
dc.date.issued2018-04-
dc.identifier.citationTruncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies. 2018, 4 (2):e222 Neurol Geneten
dc.identifier.issn2376-7839-
dc.identifier.pmid29582019-
dc.identifier.doi10.1212/NXG.0000000000000222-
dc.identifier.urihttp://hdl.handle.net/11287/620672-
dc.description.abstractTo identify the genetic cause of disease in 2 previously unreported families with forms of distal hereditary motor neuropathies (dHMNs).en
dc.language.isoenen
dc.publisherWolters Kluweren
dc.relation.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/29582019/en
dc.rightsArchived with thanks to Neurology. Genetics. This is an open access article distributed under the terms of the CreativeCommonsAttributionLicense(CCBY),which permits unrestricted use,distribution,and reproduction in any medium, provided the original work is properly cited.en
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleTruncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.en
dc.typeJournal Articleen
dc.identifier.journalNeurology. Geneticsen
dc.description.noteThis article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.en
dc.type.versionPublisheden

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