A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models such as Drosophila can provide a valuable aid. He...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2018-05-01
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Series: | PLoS Genetics |
Online Access: | http://europepmc.org/articles/PMC5973622?pdf=render |