Article
Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
American journal of human genetics - 1 Oct 2002
Williams Charlene J, Zhang Yun, Timms Andrew, Bonavita Gina, Caeiro Francisco, Broxholme John, Cuthbertson Jonathan, Jones Yvonne, Marchegiani Raul, Reginato Antonio, Russell R Graham G, Wordsworth B Paul, Carr Andrew J, Brown Matthew A
Abstract excerpt
Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5p15. 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 pyro...
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