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.
OBJECTIVE: Certain mutations in ANKH, which encodes a multiple-pass transmembrane protein that regulates inorganic pyrophosphate (PPi) transport, are linked to autosomal-dominant familial chondrocalcinosis. This study investigated the potential for ANKH sequence variants to promote sporadic chondro...
Autors principals: | Zhang, Y, Johnson, K, Russell, R, Wordsworth, B, Carr, A, Terkeltaub, R, Brown, M |
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Format: | Journal article |
Idioma: | English |
Publicat: |
2005
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