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

doi:10.1186/1471-2350-14-91

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 journal › Article › peer-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 language	English
Pages (from-to)	91
Journal	BMC Medical Genetics
Volume	14
DOIs	https://doi.org/10.1186/1471-2350-14-91
Publication status	Published - 2013

Keywords / Materials (for Non-textual outputs)

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

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10.1186/1471-2350-14-91

Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease
© 2013 Bishop et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Final published version, 227 KBLicence: Creative Commons: Attribution (CC-BY)

http://www.biomedcentral.com/1471-2350/14/91

Cite this

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

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.",

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T1 - Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease

AU - Bishop, Matthew T

AU - Sanchez-Juan, Pascual

AU - Knight, Richard S G

PY - 2013

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AB - 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.

KW - Base Sequence

KW - Creutzfeldt-Jakob Syndrome

KW - Gene Frequency

KW - Genotype

KW - Humans

KW - Introns

KW - Molecular Sequence Data

KW - Odds Ratio

KW - Polymorphism, Single Nucleotide

KW - RNA Splice Sites

KW - Sequence Analysis, DNA

KW - Type C Phospholipases

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DO - 10.1186/1471-2350-14-91

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SN - 1471-2350

VL - 14

SP - 91

JO - BMC Medical Genetics

JF - BMC Medical Genetics

ER -

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

Abstract

Keywords / Materials (for Non-textual outputs)

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