
The NIHR Oxford Biomedical Research Centre is a collaboration between the University of Oxford and Oxford University Hospitals NHS Foundation Trust to fund medical research.
NIHR Oxford Biomedical Research Centre
Enabling translational research through partnership
The NIHR Oxford Biomedical Research Centre is a collaboration between the University of Oxford and Oxford University Hospitals NHS Foundation Trust to fund medical research.
As part of a fantastic international collaboration, today we describe an ancient 10bp repeat expansion in VWA1 that causes a recessive motor neuropathy @OxfordBRC @HumanGeneticsOx @GenomicsEngland
ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
Abstract. The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand fact...
academic.oup.com
Come and work with us on high-throughput sequencing of bacterial and viral pathogens..
Post: Bioinformatician / Computational Bioscientist in Microbiology
Plz retweet.
https://t.co/SPYM7ZgTs7
@OxfordBRC @NDMOxford
“The fact that ten project participants were identified as having VWA1 gene mutations is yet another demonstration of the tangible benefits participating in the 100,000 Genomes Project can bring..." @Rich_Genomics
@NIHRresearch @OxfordMedSci @NDMOxford
Ancient gene mutation found to cause rare hereditary condition - NIHR Oxford Biomedical Research Centre
UK scientists have found that a 7,000-year-old genetic mutation is responsible for a rare form of hereditary motor neuropathy (HMN). In a paper, publi...
oxfordbrc.nihr.ac.uk
Ten participants from our #Genomes100K Project, including 7-year-old Lucrezia, a patient @GreatOrmondSt, were identified as having the #gene mutations responsible for a rare form of hereditary motor neuropathy #HMN. https://t.co/3Xr9ZXfcKB
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