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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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.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2012
Fag:
Research Article
Online adgang: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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