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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Main Authors: Farrow, Emily G., Davis, Siobhan I., Ward, Leanne M., Summers, Lelia J., Bubbear, Judith S., Keen, Richard, Stamp, Trevor C.B., Baker, Laurence R. I., Bonewald, Lynda F., White, Kenneth E.
Format: Artigo
Jezik:Inglês
Izdano: 2008
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Article
Online dostop: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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