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Volumn 14, Issue 6, 2000, Pages 480-481

A novel G472R mutation in a Turkish family with X-linked Alport syndrome

Author keywords

Alport syndrome; Novel mutation; Turkish; X linked

Indexed keywords

ARGININE; COLLAGEN TYPE 4; GLYCINE;

EID: 0034105177     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670050797     Document Type: Article
Times cited : (3)

References (11)
  • 3
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    • Molecular cloning of α5 (IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus
    • Myers JC, Jones TA, Pohjolainen E-R, et al (1990) Molecular cloning of α5 (IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus. Am J Hum Genet 46:1024-1033
    • (1990) Am J Hum Genet , vol.46 , pp. 1024-1033
    • Myers, J.C.1    Jones, T.A.2    Pohjolainen, E.-R.3
  • 4
    • 0025174012 scopus 로고
    • Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X-chromosome linked Alport syndrome
    • Hostikka SL, Eddy RL, Byers MG, Hoyhtya M, Shows TB, Tryggvason K (1990) Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X-chromosome linked Alport syndrome. Proc Natl Acad Sci USA 87:1606-1610
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 1606-1610
    • Hostikka, S.L.1    Eddy, R.L.2    Byers, M.G.3    Hoyhtya, M.4    Shows, T.B.5    Tryggvason, K.6
  • 6
    • 0028940798 scopus 로고
    • Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients
    • Boye E, Flinter F, Zhou J, Tryggvason K, Bobrow M, Harris A (1995) Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients. Hum Mutat 5:197-204
    • (1995) Hum Mutat , vol.5 , pp. 197-204
    • Boye, E.1    Flinter, F.2    Zhou, J.3    Tryggvason, K.4    Bobrow, M.5    Harris, A.6
  • 8
    • 0032965096 scopus 로고    scopus 로고
    • Detection of mutations in COL4A5 in patients with Alport syndrome
    • Plant KE, Green PM, Vetrie D, Flinter FA (1999) Detection of mutations in COL4A5 in patients with Alport Syndrome. Hum Mutat 13:124-132
    • (1999) Hum Mutat , vol.13 , pp. 124-132
    • Plant, K.E.1    Green, P.M.2    Vetrie, D.3    Flinter, F.A.4
  • 9
    • 0031798895 scopus 로고    scopus 로고
    • Why are mutations in COL4A5 not detectable in all patients with Alport's syndrome
    • Flinter F, Plant K (1998) Why are mutations in COL4A5 not detectable in all patients with Alport's syndrome. Nephrol Dial Transplant 13:1348-1351
    • (1998) Nephrol Dial Transplant , vol.13 , pp. 1348-1351
    • Flinter, F.1    Plant, K.2
  • 10
    • 0030737631 scopus 로고    scopus 로고
    • Alport syndrome - Is there a genotype-phenotype relationship?
    • Turco AE, Renieri A, De Marchi M (1997) Alport syndrome - is there a genotype-phenotype relationship? Nephrol Dial Transplant 12:1551-1568
    • (1997) Nephrol Dial Transplant , vol.12 , pp. 1551-1568
    • Turco, A.E.1    Renieri, A.2    De Marchi, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.