
establishing the role of plvap in protein losing enteropathy
December 20, 2021 12:09 pm Leave your thoughtsA homozygous missense variant leads to an attenuated phenotype
Rambam medical center report on familial whole-exome sequencing analysis, performed using Genoox software, to reveal a homozygous mutation in the PLVAP gene (c.101T>C). This variant was found to be co-segregated with a severe congenital protein-losing enteropathy (PLE).
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