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Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome

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  1. Nozu K, Przybyslaw Krol R, Ohtsuka Y, Nakanishi K, Yoshikawa N, Nozu Y, Kaito H, Kanda K, Hashimura Y, Hamasaki Y, Iijima K, Matsuo M (2008) Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients. Pediatr Nephrol 23:2085–2090

    Article  Google Scholar 

  2. Nozu K, Fu XJ, Nakanishi K, Yoshikawa N, Kaito H, Kanda K, Krol RP, Miyashita R, Kamitsuji H, Kanda S, Hayashi Y, Satomura K, Shimizu N, Iijima K, Matsuo M (2007) Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR. Pediatr Res 62:364–369

    Article  CAS  Google Scholar 

  3. Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T, Nakanishi K, Yoshikawa N, Iijima K, Matsuo M (2008) Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. J Med Genet 45:182–186

    Article  CAS  Google Scholar 

  4. Hertz J, Juncker I, Marcussen N (2008) MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. Clin Genet 74:522–530

    Article  CAS  Google Scholar 

  5. Dahan K, Heidet L, Zhou J, Mettler G, Leppig KA, Proesmans W, David A, Roussel B, Mongeau JG, Gould JM, Grunfeld J-P, Gubler M-C, Antignac C (1995) Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females. Kidney Int 48:1900–1906

    Article  CAS  Google Scholar 

  6. Kashtan CE, Michael AF (1996) Alport syndrome. Kidney Int 50:1445–1463

    Article  CAS  Google Scholar 

  7. Miner JH (1999) Alport syndrome with diffuse leiomyomatosis. When and when not? Am J Pathol 154:1633–1635

    Article  CAS  Google Scholar 

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Correspondence to Kandai Nozu.

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Nozu, K., Krol, R.P., Nakanishi, K. et al. Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome. Pediatr Nephrol 24, 1773–1774 (2009). https://doi.org/10.1007/s00467-009-1122-0

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  • DOI: https://doi.org/10.1007/s00467-009-1122-0

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