Journal article
A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis
- Abstract:
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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 hyperphosphataemia. To facilitate in vivo studies of these heritable disorders of phosphate homeostasis, we embarked on establishing a mouse model by assessing progeny of mice treated with the chemical ...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 1.7MB, Terms of use)
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- Publisher copy:
- 10.1371/journal.pone.0043205
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Bibliographic Details
- Publisher:
- Public Library of Science
- Journal:
- PLoS ONE More from this journal
- Volume:
- 7
- Issue:
- 8
- Pages:
- e43205
- Publication date:
- 2012-08-13
- Acceptance date:
- 2012-07-18
- DOI:
- EISSN:
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1932-6203
- ISSN:
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1932-6203
Item Description
- Language:
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English
- Keywords:
-
- UUID:
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uuid:d4eaf5a2-e04b-459b-8218-1b1a6cbc08d2
- Local pid:
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pubs:349791
- Source identifiers:
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349791
- Deposit date:
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2013-11-16
Terms of use
- Copyright holder:
- Esapa et al
- Copyright date:
- 2012
- Notes:
- © Esapa et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
- Licence:
- CC Attribution (CC BY)
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