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ANKH mutations cause both familial and sporadic calcium pyrophosphate dihydrate chondrocalcinosis and increase ANKH transcription/2 translation.

ANKH mutations cause both familial and sporadic calcium pyrophosphate dihydrate chondrocalcinosis and increase ANKH transcription/2 translation.

書目詳細資料
Main Authors: Zhang, Y, Johnson, K, Wordsworth, P, Russell, G, Carr, A, Terkeltaub, R, Brown, M
格式: Conference item
出版: 2004
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  • GAIN OF FUNCTION ANKH VARIANTS CAUSE BOTH FAMILIAL AND SPORADIC CALCIUM PYROPHOSPHATE DIHYDRATE CHONDROCALCINOSIS
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  • Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate.
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  • THE ROLE OF ANKH IN ANKYLOSING SPONDYLITIS
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