@article{f6fa9f8e64064db2af014d781c001ce8,
title = "Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH",
abstract = "Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5pl5. We have identified a mutation in the ANKH gene that segregates with the disease in a family with this condition. ANKH encodes a putative transmembrane inorganic pyrophosphate (PPi) transport channel. We postulate that loss of function of ANKH causes elevated extracellular PPi levels, predisposing to CPPD crystal deposition.",
author = "Williams, {Charlene J.} and Yun Zhang and Andrew Timms and Gina Bonavita and Francisco Caeiro and John Broxholme and Jonathan Cuthbertson and Yvonne Jones and Raul Marchegiani and Antonio Reginato and {Graham Russell}, R. and Wordsworth, {B. Paul} and Carr, {Andrew J.} and Brown, {Matthew A.}",
note = "Funding Information: We thank all the family members who have assisted with this study. M.A.B., Y.Z., and A.T. are supported by the Arthritis Research Campaign, United Kingdom. C.J.W. and G.B. are supported by a National Institutes of Health/National Institute of Arthritis, Musculoskeletal, and Skin Diseases grant (to C.J.W., Principal Investigator). Copyright: Copyright 2019 Elsevier B.V., All rights reserved.",
year = "2002",
doi = "10.1086/343053",
language = "English (US)",
volume = "71",
pages = "985--991",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",
}