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-  2018 

Phospholipase C-Gamma 2 Activity in Familial Steroid-Sensitive Nephrotic Syndrome

DOI: https://doi.org/10.1038/s41390-018-0259-6

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Abstract:

Familial Steroid-sensitive Nephrotic Syndrome (SSNS) is rare, complicating the identification of candidate genes. A recent population-based approach study of SSNS identified HLA-DQA1 and Phospholipase C-Gamma 2 (PLCG2) missense coding variants as candidate loci. PLCG2 is a signaling molecule regulated by phosphorylation and is critical for Ca2+ flux in cells of the immune system

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