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Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerizatio...

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerizatio...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5159756

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

Hereditary spastic paraplegias (HSP) are the second most common type of motor neuron disease recognized worldwide. We investigated a total of 25 consanguineous families from Sudan. We used next-generation sequencing to screen 74 HSP-related genes in 23 families. Linkage analysis and candidate gene sequencing was performed in two other families. We...

Alternative Titles

Full title

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5159756

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5159756

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/ejhg.2016.108

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