Table of Contents
Int. J. Mol. Sci., Volume 19, Issue 8 (August 2018) – 316 articles
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Cover Story (view full-size image) The data from the Exome Aggregation Consortium (ExAC) reveal which human genes are tolerant to [...] Read more. The data from the Exome Aggregation Consortium (ExAC) reveal which human genes are tolerant to mutations and which are not. A surprisingly high number of missense mutations are found in the general population for the gene PMM2, which is primarily responsible for PMM2-CDG, a life-threatening disorder of glycosylation. This finding suggests that lower activity of PMM2 can be beneficial under certain circumstances and that the co-occurrence of variants in modifier genes can worsen the diagnosis of PMM2-CDG. View the paper here.