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http://purl.uniprot.org/citations/33165979http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/33165979http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/33165979http://www.w3.org/2000/01/rdf-schema#comment"

Background

Spastic paraparesis and biallelic variants functionally characterized as deleterious in the RNF170 gene have recently been reported by Wagner et al. 2019, strongly supporting the involvement of this gene in hereditary spastic paraplegia.

Methods

Exome sequencing was performed on 6 hereditary spastic paraplegia families previously tested on an hereditary spastic paraplegia-specific panel.

Results

We describe here a novel hereditary spastic paraplegia family with 4 affected members carrying a homozygous p.(Tyr114*) stop gain variant in RNF170.

Conclusions

We confirm the involvement of biallelic truncating variants in RNF170 in a novel form of hereditary spastic paraplegia. © 2020 International Parkinson and Movement Disorder Society."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.org/dc/terms/identifier"doi:10.1002/mds.28371"xsd:string
http://purl.uniprot.org/citations/33165979http://purl.org/dc/terms/identifier"doi:10.1002/mds.28371"xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Stevanin G."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Stevanin G."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Mercier S."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Mercier S."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Buratti J."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Buratti J."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"de Sainte Agathe J.M."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"de Sainte Agathe J.M."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Pereon Y."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Pereon Y."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Leguern E."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Leguern E."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Banneau G."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Banneau G."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Kol B."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Kol B."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Mahe J.Y."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Mahe J.Y."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Said S.A."xsd:string
http://purl.uniprot.org/citations/33165979http://purl.uniprot.org/core/author"Said S.A."xsd:string
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