Recurrent Infections and Immunodeficiency Caused by Severe Pancytopenia Associated with a Novel Life-Threatening Mutation in Hypoxia-Upregulated Protein 1
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DOI: 10.1080/08820139.2022.2072736
Abstract: ABSTRACT HYOU1 encodes a protein from the endoplasmic reticulum chaperone proteins, expressed to protect cellular mechanisms from stress such as hypoxia, insufficient energy and excessive or insufficient substances, and to restore cell homeostasis. In this… read more here.
Keywords: pathogenic variant; variant hyou1; infections immunodeficiency; hypoxia ... See more keywords