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Article

Basic science meets clinical medicine: identification of a CD2AP-deficient patient.

Kidney international - 1 Nov 2007

Akilesh S, Koziell A, Shaw A S

Abstract excerpt

Recent years have witnessed an explosion of research into the molecular basis of glomerular disease resulting in nephrotic- range urinary protein leak using both human genetics and animal models. Löwik et al. describe the first case report of an early-onset nephrotic syndrome presenting in conjunction with a homozygous CD2AP mutation. These data demonstrate the convergence between basic and clinical approaches...

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PMID: 17972907
DOI: 10.1038/sj.ki.5002575

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