Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH

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 pyropho...

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Bibliographic Details

Published in:	American journal of human genetics 2002-10, Vol.71 (4), p.985-991
Main Authors:	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.
Format:	Article
Language:	eng
Subjects:	Amino Acid Sequence Biological and medical sciences Calcium Pyrophosphate - metabolism Chondrocalcinosis - genetics Chondrocalcinosis - metabolism Chromosomes, Human, Pair 5 Diseases of the osteoarticular system Humans Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Membrane Proteins - genetics Metabolic Diseases - genetics Molecular Sequence Data Mutation Pedigree Phosphate Transport Proteins Sequence Homology, Amino Acid
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