A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

Familial tumoral calcinosis is characterized by ectopic calcifications and hyperphosphatemia due to inactivating mutations in FGF23 or UDP-N-acetyl-α-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3). Herein we report a homozygous missense mutation (H193R) in the KLOTHO (KL) g...

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Main Authors: Ichikawa, Shoji, Imel, Erik A., Kreiter, Mary L., Yu, Xijie, Mackenzie, Donald S., Sorenson, Andrea H., Goetz, Regina, Mohammadi, Moosa, White, Kenneth E., Econs, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2007
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1940239/
https://ncbi.nlm.nih.gov/pubmed/17710231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI31330
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