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Article Summary

Click the title below to leave the MDLinx Network and go to the Journal's Website

Nephrin Mutations Can Cause Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Journal of the American Society of Nephrology, 07/10/08

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Free Abstract

Philippe A et al. - Most missense variants trafficked normally to the plasma membrane and maintained the ability to form nephrin homodimers and to heterodimerize with NEPH1, suggesting retained function. The presence of at least one "mild" mutation in these patients likely explains the later onset and milder course of disease. These results broaden the spectrum of renal disease related to nephrin mutations.

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