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Journal Abstract Search

269 related items for PubMed ID: 23079138

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  • 2. Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.
    Xia W, Meng X, Jiang Y, Li M, Xing X, Pang L, Wang O, Pei Y, Yu LY, Sun Y, Hu Y, Zhou X.
    Calcif Tissue Int; 2007 Dec; 81(6):415-20. PubMed ID: 18046499
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  • 3. Hypophosphatemic rickets caused by a novel splice donor site mutation and activation of two cryptic splice donor sites in the PHEX gene.
    Zou M, Buluş D, Al-Rijjal RA, Andıran N, BinEssa H, Kattan WE, Meyer B, Shi Y.
    J Pediatr Endocrinol Metab; 2015 Jan; 28(1-2):211-6. PubMed ID: 25153221
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  • 4. Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.
    Li SS, Gu JM, Yu WJ, He JW, Fu WZ, Zhang ZL.
    Int J Mol Med; 2016 Dec; 38(6):1703-1714. PubMed ID: 27840894
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  • 6. Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.
    Beck-Nielsen SS, Brixen K, Gram J, Brusgaard K.
    J Hum Genet; 2012 Jul; 57(7):453-8. PubMed ID: 22695891
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  • 7. Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.
    Clausmeyer S, Hesse V, Clemens PC, Engelbach M, Kreuzer M, Becker-Rose P, Spital H, Schulze E, Raue F.
    Calcif Tissue Int; 2009 Sep; 85(3):211-20. PubMed ID: 19513579
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  • 8. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
    Ma SL, Vega-Warner V, Gillies C, Sampson MG, Kher V, Sethi SK, Otto EA.
    PLoS One; 2015 Sep; 10(6):e0130729. PubMed ID: 26107949
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  • 11. A novel Phex mutation in a new mouse model of hypophosphatemic rickets.
    Owen C, Chen F, Flenniken AM, Osborne LR, Ichikawa S, Adamson SL, Rossant J, Aubin JE.
    J Cell Biochem; 2012 Jul; 113(7):2432-41. PubMed ID: 22573557
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  • 14. Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets.
    Qiu G, Liu C, Zhou J, Liu P, Wang J, Jiang H, Hou Z, Zhao Y, Sun K, Li-Ling J.
    Genet Test Mol Biomarkers; 2010 Jun; 14(3):385-91. PubMed ID: 20578943
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  • 16. [Gene mutation analysis of X-linked hypophosphatemic rickets].
    Song Y, Ma HW, Li F, Hu M, Ren S, Yu YF, Zhao GJ.
    Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov; 15(11):928-31. PubMed ID: 24229582
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