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Molecular Analysis of DMP1 Mutants Causing Autosomal Recessive Hypophosphatemic Rickets
We previously demonstrated that the mutations Met1Val (M1V) and the deletion of nucleotides 1484-1490 (1484-1490del) in Dentin matrix protein-1 (DMP1) cause the novel disorder autosomal recessive hypophosphatemic rickets (ARHR), which is associated with elevated Fibroblast growth factor-23 (FGF23)....
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主要な著者: | , , , , , , , , , |
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フォーマット: | Artigo |
言語: | Inglês |
出版事項: |
2008
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主題: | |
オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2669955/ https://ncbi.nlm.nih.gov/pubmed/19007919 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2008.10.040 |
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