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Volumn 5, Issue 1, 2010, Pages 34-38

Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure

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Indexed keywords

COMPLEMENTARY DNA;

EID: 75749130327     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.01030209     Document Type: Article
Times cited : (40)

References (13)
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    • Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: Impact on clinical counselling
    • Gross O, Netzer K-O, Lambrecht R, Seibold S, Weber M: Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: Impact on clinical counselling. Nephrol Dial Transplant 17: 1218-1227, 2002
    • (2002) Nephrol Dial Transplant , vol.17 , pp. 1218-1227
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    • Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC: X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families-A "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol 14: 2603-2610, 2003
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    • A comparison of the clinical, histopathological and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport syndrome
    • Dagher H, Buzza M, Colville D, Jones C, Powell H, Fassett R, Wilson D, Agar J, Savige J: A comparison of the clinical, histopathological and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport syndrome. Am J Kidney Dis 38: 1217-1228, 2001
    • (2001) Am J Kidney Dis , vol.38 , pp. 1217-1228
    • Dagher, H.1    Buzza, M.2    Colville, D.3    Jones, C.4    Powell, H.5    Fassett, R.6    Wilson, D.7    Agar, J.8    Savige, J.9
  • 10
    • 0035374545 scopus 로고    scopus 로고
    • Hair roots as the ideal source of mRNA for genetic testing
    • King K, Flinter FA, Green PM: Hair roots as the ideal source of mRNA for genetic testing. J Med Genet 38: E20, 2001
    • (2001) J Med Genet , vol.38
    • King, K.1    Flinter, F.A.2    Green, P.M.3
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    • Tazon-Vega B, Ars E, Burset M, Santin S, Ruiz P, Fernandez-Llama P, Ballarin J, Torra R: Genetic testing for Xlinked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root samples. Am J Kidney Dis 50: 257.e1-257.e14, 2007
    • Tazon-Vega B, Ars E, Burset M, Santin S, Ruiz P, Fernandez-Llama P, Ballarin J, Torra R: Genetic testing for Xlinked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root samples. Am J Kidney Dis 50: 257.e1-257.e14, 2007
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    • Detection of mutations in the COL4A5 gene by analysing cDNA of skin fibroblasts
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    • The retinal "lozenge" or "dull macular reflex" in Alport syndrome is associated with a severe retinopathy and early onset renal failure
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.