Browsing Temel Tıp Bilimleri Bölümü Makale Koleksiyonu by Publisher "Amer Soc Nephrology"
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Exome Sequencing Reveals Cubilin Mutation As A Single-Gene Cause Of Proteinuria
(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 ...