A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

S. Ichikawa, Erik Imel, M. L. Kreiter, X. Yu, D. S. Mackenzie, A. H. Sorenson, R. Goetz, M. Mohammadi, Kenneth White, Michael Econs

Research output: Contribution to journalArticle

38 Citations (Scopus)
Original languageEnglish
Pages (from-to)318-319
Number of pages2
JournalJournal of Musculoskeletal Neuronal Interactions
Volume7
Issue number4
StatePublished - Oct 2007

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DNA Mutational Analysis
N-Acetylgalactosaminyltransferases
Hyperphosphatemia
Calcinosis
Fibroblast Growth Factor Receptors
Fibroblast Growth Factors
Chromosome Mapping
Glucuronidase
Homozygote
Missense Mutation
Genetic Predisposition to Disease
Protein Binding
Vitamin D
Catalytic Domain
Phosphates

ASJC Scopus subject areas

  • Neuroscience(all)
  • Endocrinology

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A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. / Ichikawa, S.; Imel, Erik; Kreiter, M. L.; Yu, X.; Mackenzie, D. S.; Sorenson, A. H.; Goetz, R.; Mohammadi, M.; White, Kenneth; Econs, Michael.

In: Journal of Musculoskeletal Neuronal Interactions, Vol. 7, No. 4, 10.2007, p. 318-319.

Research output: Contribution to journalArticle

Ichikawa, S, Imel, E, Kreiter, ML, Yu, X, Mackenzie, DS, Sorenson, AH, Goetz, R, Mohammadi, M, White, K & Econs, M 2007, 'A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.', Journal of Musculoskeletal Neuronal Interactions, vol. 7, no. 4, pp. 318-319.
Ichikawa, S. ; Imel, Erik ; Kreiter, M. L. ; Yu, X. ; Mackenzie, D. S. ; Sorenson, A. H. ; Goetz, R. ; Mohammadi, M. ; White, Kenneth ; Econs, Michael. / A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. In: Journal of Musculoskeletal Neuronal Interactions. 2007 ; Vol. 7, No. 4. pp. 318-319.
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