A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.

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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Autores principales: Christopher T Esapa, Rosie A Head, Jeshmi Jeyabalan, Holly Evans, Tertius A Hough, Michael T Cheeseman, Eugene G McNally, Andrew J Carr, Gethin P Thomas, Matthew A Brown, Peter I Croucher, Steve D M Brown, Roger D Cox, Rajesh V Thakker
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2012
Materias:
Medicine
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Science
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Acceso en línea:https://doaj.org/article/f3daf5790f834182ba84b775deebca5e
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