Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease

Matthew T Bishop, Pascual Sanchez-Juan, Richard S G Knight

Research output: Contribution to journalArticlepeer-review

Abstract

Variant Creutzfeldt-Jakob disease is an infectious, neurodegenerative, protein-misfolding disease, of the prion disease family, originally acquired through ingestion of meat products contaminated with bovine spongiform encephalopathy (BSE). Public health concern was increased by the discovery of human-to-human transmission via blood transfusion. This study has verified a novel genetic marker linked to disease risk.
Original languageEnglish
Pages (from-to)91
JournalBMC Medical Genetics
Volume14
DOIs
Publication statusPublished - 2013

Keywords

  • Base Sequence
  • Creutzfeldt-Jakob Syndrome
  • Gene Frequency
  • Genotype
  • Humans
  • Introns
  • Molecular Sequence Data
  • Odds Ratio
  • Polymorphism, Single Nucleotide
  • RNA Splice Sites
  • Sequence Analysis, DNA
  • Type C Phospholipases

Fingerprint Dive into the research topics of 'Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease'. Together they form a unique fingerprint.

Cite this