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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC419998/
https://ncbi.nlm.nih.gov/pubmed/12297989
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