Akport综合征基因学发病机制研究进展(2)
[4] Hertz JM，J uncker I，Persson U，et al. Detection of mutations in the COL4A5 gene by SSCP in X - linked Alport syndrome[J].Hum Mutat，2001，18(2)：141.
[5] Pan X，Yan J，Ren H，et al. Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome[J].Nephrol Dial Transplant，2004，19(5)：1123.
[6] Arrondel C，Deschenes G，Le Meur Y，et al. A large tandem duplica-tion with in the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia[J].Kidney Int，2004，65(6)：2030.
[7] Topaloglu R，Plant KE，Flinter F.A novel G472R mutation in a Turk-ish family with X-linked Alport syndrome[J].Pediatr Nephrol，2000，14(6)：480.
[8] Nakanishi K，Iijima K，Kuroda N，et al. Comparison of alpha 5 (Ⅳ) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome[J].J Am Soc Nephrol，1998，9(8)：1433.
[9] Hood JC，Huxtable C，Naito I，et al. A novel model of autosomal dominant Alport syndrome in Dalmatian dogs[J].Nephrol Dial Trans-plant，2002，17(12)：2094.
[10] Longo I，Porcedda P，Mari F，et al. COL4A3/ COL4A4mutations:fromfamilial hematuria to autosomal - dominant or recessive Alport syndrome[J]. Kidney Int，2002，61(6)：1947.
收稿日期：2008-01-17, http://www.100md.com(张 薇 赵旭东)
[5] Pan X，Yan J，Ren H，et al. Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome[J].Nephrol Dial Transplant，2004，19(5)：1123.
[6] Arrondel C，Deschenes G，Le Meur Y，et al. A large tandem duplica-tion with in the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia[J].Kidney Int，2004，65(6)：2030.
[7] Topaloglu R，Plant KE，Flinter F.A novel G472R mutation in a Turk-ish family with X-linked Alport syndrome[J].Pediatr Nephrol，2000，14(6)：480.
[8] Nakanishi K，Iijima K，Kuroda N，et al. Comparison of alpha 5 (Ⅳ) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome[J].J Am Soc Nephrol，1998，9(8)：1433.
[9] Hood JC，Huxtable C，Naito I，et al. A novel model of autosomal dominant Alport syndrome in Dalmatian dogs[J].Nephrol Dial Trans-plant，2002，17(12)：2094.
[10] Longo I，Porcedda P，Mari F，et al. COL4A3/ COL4A4mutations:fromfamilial hematuria to autosomal - dominant or recessive Alport syndrome[J]. Kidney Int，2002，61(6)：1947.
收稿日期：2008-01-17, http://www.100md.com(张 薇 赵旭东)