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Volumn 51, Issue 5, 2008, Pages

Novel COL4A3 Mutations in African American Siblings With Autosomal Recessive Alport Syndrome

Author keywords

Alport syndrome; kidney failure; kidney transplant; mutation detection

Indexed keywords

COLLAGEN;

EID: 43049119341     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2007.09.028     Document Type: Article
Times cited : (9)

References (14)
  • 1
    • 0033736746 scopus 로고    scopus 로고
    • Alport syndrome: Abnormalities of type IV collagen genes and proteins
    • Kashtan C.E. Alport syndrome: Abnormalities of type IV collagen genes and proteins. Ren Fail 22 (2000) 737-749
    • (2000) Ren Fail , vol.22 , pp. 737-749
    • Kashtan, C.E.1
  • 5
    • 0015081374 scopus 로고
    • Alport's syndrome in a Negro kindred
    • Schatz H. Alport's syndrome in a Negro kindred. Am J Ophthalmol 71 (1971) 1236-1240
    • (1971) Am J Ophthalmol , vol.71 , pp. 1236-1240
    • Schatz, H.1
  • 6
    • 34247897033 scopus 로고    scopus 로고
    • Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases
    • Rana K., Tonna S., Wang Y.Y., et al. Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases. Pediatr Nephrol 22 (2007) 652-657
    • (2007) Pediatr Nephrol , vol.22 , pp. 652-657
    • Rana, K.1    Tonna, S.2    Wang, Y.Y.3
  • 7
    • 0028069132 scopus 로고
    • Mutations in the type IVα3 (COL4A3) gene in autosomal recessive Alport syndrome
    • Lemmink H.H., Mochizuki T., van den Heuvel L.P.W.J., et al. Mutations in the type IVα3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet 3 (1994) 1269-1273
    • (1994) Hum Mol Genet , vol.3 , pp. 1269-1273
    • Lemmink, H.H.1    Mochizuki, T.2    van den Heuvel, L.P.W.J.3
  • 9
    • 0034073758 scopus 로고    scopus 로고
    • X-Linked Alport syndrome; Natural history in 195 families and genotype-phenotype correlations in males
    • Jais J.P., Knebelmann B., Giatras I., et al. X-Linked Alport syndrome; Natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol 11 (2000) 649-657
    • (2000) J Am Soc Nephrol , vol.11 , pp. 649-657
    • Jais, J.P.1    Knebelmann, B.2    Giatras, I.3
  • 10
    • 0036020918 scopus 로고    scopus 로고
    • Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: Impact on clinical counseling
    • Gross O., Netzer K.O., Lambrecht R., Seibold S., and Weber M. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: Impact on clinical counseling. Nephrol Dial Transplant 17 (2002) 1218-1227
    • (2002) Nephrol Dial Transplant , vol.17 , pp. 1218-1227
    • Gross, O.1    Netzer, K.O.2    Lambrecht, R.3    Seibold, S.4    Weber, M.5
  • 11
    • 33644853600 scopus 로고    scopus 로고
    • Autosomal recessive Alport syndrome: An in-depth clinical and molecular analysis of five families
    • Longo I., Scala E., Mari F., et al. Autosomal recessive Alport syndrome: An in-depth clinical and molecular analysis of five families. Nephrol Dial Transplant 21 (2006) 665-671
    • (2006) Nephrol Dial Transplant , vol.21 , pp. 665-671
    • Longo, I.1    Scala, E.2    Mari, F.3
  • 12
    • 35848944448 scopus 로고    scopus 로고
    • COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis in thin basement membrane nephropathy
    • Voskarides K., Damianou L., Neocleous V., et al. COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis in thin basement membrane nephropathy. J Am Soc Nephrol 18 (2007) 3004-3016
    • (2007) J Am Soc Nephrol , vol.18 , pp. 3004-3016
    • Voskarides, K.1    Damianou, L.2    Neocleous, V.3
  • 13
    • 37349123995 scopus 로고    scopus 로고
    • Inherited diseases of the glomerular basement membrane
    • Gubler M.C. Inherited diseases of the glomerular basement membrane. Nat Clin Pract Nephrol 4 (2008) 24-37
    • (2008) Nat Clin Pract Nephrol , vol.4 , pp. 24-37
    • Gubler, M.C.1
  • 14
    • 35848956844 scopus 로고    scopus 로고
    • The wages of thin
    • Kashtan C.E. The wages of thin. J Am Soc Nephrol 18 (2007) 2800-2802
    • (2007) J Am Soc Nephrol , vol.18 , pp. 2800-2802
    • Kashtan, C.E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.