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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書誌詳細
主要な著者: Esapa, C, Head, R, Jeyabalan, J, Evans, H, Hough, T, Cheeseman, M, McNally, E, Carr, A, Thomas, G, Brown, M, Croucher, P, Brown, S, Cox, R, Thakker, R
フォーマット: Journal article
言語:English
出版事項: Public Library of Science 2012