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Journal article

Cuff tear arthropathy: evidence of functional variation in pyrophosphate metabolism genes.

Abstract:

We investigated the role of two genes, ANKH and TNAP, in patients with cuff tear arthropathy. These genes encode proteins which regulate the extracellular concentration of inorganic pyrophosphate, fluctuations of which can lead to calcium crystal formation. Variants were detected by direct sequencing of DNA and their frequencies compared with healthy controls. The effect of variants on protein function was further studied by in vitro approaches. Variant genotypes were observed more frequently...

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Publication status:
Published

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Institution:
University of Oxford
Division:
MSD
Department:
NDORMS
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDORMS
Role:
Author
Journal:
Clinical orthopaedics and related research
Volume:
462
Issue:
462
Pages:
67-72
Publication date:
2007-09-01
DOI:
EISSN:
1528-1132
ISSN:
0009-921X
Source identifiers:
103875

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