Article
Cuff tear arthropathy: evidence of functional variation in pyrophosphate metabolism genes.
Clinical orthopaedics and related research - 1 Sept 2007
Peach Chris A, Zhang Yun, Dunford James E, Brown Matthew A, Carr Andrew J
Abstract excerpt
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...
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