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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3418237/
https://www.ncbi.nlm.nih.gov/pubmed/22912827
http://dx.doi.org/10.1371/journal.pone.0043205

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