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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.

Abstract:

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 chondrocalcinosis. METHODS: ANKH variants identified by genomic sequencing were screened for association with chondrocalcinosis in 128 patients with severe sporadic chondrocalcinosis or pseudogout and in ...

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Publication status:
Published

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Publisher copy:
10.1002/art.20978

Authors


Johnson, K More by this author
Russell, RG More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, NDORMS
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, NDORMS
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Journal:
Arthritis and rheumatism
Volume:
52
Issue:
4
Pages:
1110-1117
Publication date:
2005-04-05
DOI:
EISSN:
1529-0131
ISSN:
0004-3591
URN:
uuid:4c044c4e-331b-498c-a55a-44bc8c1eade2
Source identifiers:
103856
Local pid:
pubs:103856

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