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

S Akilesh, A Koziell, A S Shaw

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

Abstract

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 and their potential to transform our understanding of the pathogenetic mechanisms underlying human glomerular disease.
Original languageEnglish
Pages (from-to)1181-1183
Number of pages3
JournalKidney International
Volume72
Issue number10
DOIs
Publication statusPublished - 2 Nov 2007

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