Yayıncı "Amer Soc Nephrology" Temel Tıp Bilimleri Bölümü Makale Koleksiyonu için listeleme

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    • Exome Sequencing Reveals Cubilin Mutation As A Single-Gene Cause Of Proteinuria 

      Ovunc, Bugsu; Otto, Edgar A.; Vega-Warner, Virginia; Saisawat, Pawaree; Ashraf, Shazia; Ramaswami, Gokul; Fathy, Hanan M.; Schoeb, Dominik; Chernin, Gil; Lyons, Robert H.; Yilmaz, Engin; Hildebrandt, Friedhelm (Amer Soc Nephrology, 2011)
      In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubulin, using exome capture and massively ...