Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome
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DOI: 10.1016/j.cell.2019.08.002
Abstract: The developmental disorder Floating-Harbor syndrome (FHS) is caused by heterozygous truncating mutations in SRCAP, a gene encoding a chromatin remodeler mediating incorporation of histone variant H2A.Z. Here, we demonstrate that FHS-associated mutations result in loss… read more here.
Keywords: h2a; h2a subtypes; amino acid; human syndrome ... See more keywords