메뉴 건너뛰기




Volumn 29, Issue 1, 2007, Pages 37-42

Novel PHEX gene mutation in one Taiwanese woman with hypophosphatemic rickets

Author keywords

Bone mineralization; Hypophophatemia; PHEX; Phex mutations; X linked hypophosphatemic rickets

Indexed keywords


EID: 34247267755     PISSN: 02545934     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (1)

References (15)
  • 1
    • 0025368589 scopus 로고
    • Construction and characterization of a yeast artificial chromosome library containing 7 haploid human genome equivalents
    • Albertsen HM, Abderrahim H, Cann HM, Dausset J, Le Paslier D and Cohen D (1990) Construction and characterization of a yeast artificial chromosome library containing 7 haploid human genome equivalents. Proc. Natl. Acad. Sci. USA 87: 4256-4260.
    • (1990) Proc. Natl. Acad. Sci. USA , vol.87 , pp. 4256-4260
    • Albertsen, H.M.1    Abderrahim, H.2    Cann, H.M.3    Dausset, J.4    Le Paslier, D.5    Cohen, D.6
  • 2
    • 19144366650 scopus 로고    scopus 로고
    • Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets
    • Chou YY, Chao SC, Tsai SC and Lin SJ (2005) Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets. J. Formos. Med. Assoc. 104: 198-202.
    • (2005) J. Formos. Med. Assoc , vol.104 , pp. 198-202
    • Chou, Y.Y.1    Chao, S.C.2    Tsai, S.C.3    Lin, S.J.4
  • 3
    • 0035742101 scopus 로고    scopus 로고
    • The effect of growth hormone treatment on biochemical indices in hypophospatemic rickets
    • Darendeliler F, Bas F, Karaaslan N, Hekim N, Bundak R, Saka N and Gunoz H (2001) The effect of growth hormone treatment on biochemical indices in hypophospatemic rickets. Hor. Res. 55: 191-195.
    • (2001) Hor. Res , vol.55 , pp. 191-195
    • Darendeliler, F.1    Bas, F.2    Karaaslan, N.3    Hekim, N.4    Bundak, R.5    Saka, N.6    Gunoz, H.7
  • 5
    • 0002683738 scopus 로고
    • Bone disease resulting from inherited disorders of renal tubule transport and vitamin D metabolism
    • M. J. Favus and F. L. Coe, eds. Raven, New York
    • Econs MJ and Drezner MK (1992) Bone disease resulting from inherited disorders of renal tubule transport and vitamin D metabolism. In Disorders of bone and mineral metabolism, M. J. Favus and F. L. Coe, eds. Raven, New York, 935-950 pp.
    • (1992) Disorders of bone and mineral metabolism , pp. 935-950
    • Econs, M.J.1    Drezner, M.K.2
  • 6
    • 0028273206 scopus 로고
    • X-linked hypophosphatemic rickets: A disease often unknown to affected patients
    • Econs MJ, Samsa GP, Monger M, Drezner MK and Feussner JR (1994) X-linked hypophosphatemic rickets: A disease often unknown to affected patients. Bone Miner 24: 17-24.
    • (1994) Bone Miner , vol.24 , pp. 17-24
    • Econs, M.J.1    Samsa, G.P.2    Monger, M.3    Drezner, M.K.4    Feussner, J.R.5
  • 8
    • 0021950825 scopus 로고
    • Development of hypercalcemic hyperparathyroidism after long-term phosphate supplementation in hypophosphtemic osteomalacia
    • Futh RG, Giant CS and Riggs BL (1985) Development of hypercalcemic hyperparathyroidism after long-term phosphate supplementation in hypophosphtemic osteomalacia. Am. J. Med. 78: 669-673.
    • (1985) Am. J. Med , vol.78 , pp. 669-673
    • Futh, R.G.1    Giant, C.S.2    Riggs, B.L.3
  • 9
    • 0030964935 scopus 로고    scopus 로고
    • Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets
    • Hohn IA, Huang X and Kunkel LM (1997) Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am. J. Hum. Genet. 60: 790-797.
    • (1997) Am. J. Hum. Genet , vol.60 , pp. 790-797
    • Hohn, I.A.1    Huang, X.2    Kunkel, L.M.3
  • 10
    • 33746368803 scopus 로고    scopus 로고
    • Lo FS, Kuo MT, Wang CJ, Chang CH, Lee ZL and Van YH (2006) Two novel PHEX Mutations in Taiwanese patients with X-linked hypophosphatemic rickets. Nephro. Physiol. 103: 157-163.
    • Lo FS, Kuo MT, Wang CJ, Chang CH, Lee ZL and Van YH (2006) Two novel PHEX Mutations in Taiwanese patients with X-linked hypophosphatemic rickets. Nephro. Physiol. 103: 157-163.
  • 14
    • 0029160578 scopus 로고
    • A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets
    • The HYP Consortium
    • The HYP Consortium (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat. Genet. 11: 130-136.
    • (1995) Nat. Genet , vol.11 , pp. 130-136
  • 15
    • 0034164441 scopus 로고    scopus 로고
    • Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets
    • Tyynismaa H, Kaitila I, Näntö-Salonen K, Ala-Houhala M and Alitalo T (2000) Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. Hum. Mut. 15: 383-384.
    • (2000) Hum. Mut , vol.15 , pp. 383-384
    • Tyynismaa, H.1    Kaitila, I.2    Näntö-Salonen, K.3    Ala-Houhala, M.4    Alitalo, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.