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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 ...
Mutation Analysis Of Nphs1 In A Worldwide Cohort Of Congenital Nephrotic Syndrome Patients
(Karger, 2012)
Background: Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests within the first 3 months of life. Mutations in the NPHS1 gene encoding nephrin, are a major cause for CNS. Currently, more ...