A Mouse with an N-Ethyl-N-Nitrosourea (ENU) Induced Trp589Arg Galnt3 Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis

Mutations of UDP-N-acetyl-alpha-D-galactosamine polypeptide N-acetyl galactosaminyl transferase 3 (GALNT3) result in familial tumoural calcinosis (FTC) and the hyperostosis-hyperphosphataemia syndrome (HHS), which are autosomal recessive disorders characterised by soft-tissue calcification and hyper...

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Detalhes bibliográficos
Main Authors: Esapa, Christopher T., Head, Rosie A., Jeyabalan, Jeshmi, Evans, Holly, Hough, Tertius A., Cheeseman, Michael T., McNally, Eugene G., Carr, Andrew J., Thomas, Gethin P., Brown, Matthew A., Croucher, Peter I., Brown, Steve D. M., Cox, Roger D., Thakker, Rajesh V.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3418237/
https://ncbi.nlm.nih.gov/pubmed/22912827
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0043205
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