Journal of Cystic Fibrosis
Volume 2, Issue 1 , Pages 14-18 , March 2003

CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens

  • Chieko Anzai

      Affiliations

    • Department of Gene Therapy, Institute of DNA Medicine, The Jikei University School of Medicine, 3-25-8 Nishi-shinbashi, Minato-ku, Tokyo 105-8461, Japan
    • ,
  • Nasa Morokawa

      Affiliations

    • Department of Gene Therapy, Institute of DNA Medicine, The Jikei University School of Medicine, 3-25-8 Nishi-shinbashi, Minato-ku, Tokyo 105-8461, Japan
    • ,
  • Hiroshi Okada

      Affiliations

    • Department of Urology, Kobe University School of Medicine, Kobe, Japan
    • ,
  • Sadao Kamidono

      Affiliations

    • Department of Urology, Kobe University School of Medicine, Kobe, Japan
    • ,
  • Yoshikatsu Eto

      Affiliations

    • Department of Gene Therapy, Institute of DNA Medicine, The Jikei University School of Medicine, 3-25-8 Nishi-shinbashi, Minato-ku, Tokyo 105-8461, Japan
    • ,
  • Kunihiko Yoshimura

      Affiliations

    • Department of Gene Therapy, Institute of DNA Medicine, The Jikei University School of Medicine, 3-25-8 Nishi-shinbashi, Minato-ku, Tokyo 105-8461, Japan
    • Corresponding Author InformationCorresponding author. Tel.: +81-3-3433-1111x2345; fax: +81-3-3433-1230

References 

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  12. Culaud JF, Desgeorges M, Costa P, et al.  Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. Hum Genet. 1994;93:467–470
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  19. Hojo S, Fujita J, Miyawaki H, Obayashi Y, Takahara J, Bartholomew DW. Severe cystic fibrosis associated with a ΔF508/R347H+D979A compound heterozygous genotype. Clin Genet. 1998;3:50–53
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  23. Okada H, Yoshimura K, Fujioka H, et al.  Assisted reproduction technology for patients with congenital bilateral absence of vas deferens. J Urol. 1999;161:1157–1162
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  28. Mak V, Jarvi KA, Zielenski J, Durie P, Tsui L-C. Higher proportion of intact exon 9 mRNA in nasal epithelium compared with vas deferens. Hum Mol Genet. 1997;6:2099–2107
  29. Teng H, Jorissen M, Poppel HV, Legius E, Cassiman JJ, Cuppens H. Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Hum Mol Genet. 1997;6:85–90
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PII: S1569-1993(02)00144-3

doi: 10.1016/S1569-1993(02)00144-3

Journal of Cystic Fibrosis
Volume 2, Issue 1 , Pages 14-18 , March 2003

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