Unraveling the Genetic Basis of Blood Disorders: Insights on Dock11 Mutations

2023-07-11 15:30:55

medicine

Tuesday, July 11, 2023 Vienna – Mutations in the gene for the protein Dock11 can disrupt blood formation in the bone marrow, which leads to anemia and severe immune system disorders in the affected infants and young children. An international research team describes the previously unknown genetic defect in the New England Journal of Medicine (2023; DOI: 10.1056/NEJMoa2210054). Exome sequencing, which encompasses all protein-coding genes, has become an important…
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#Gene #defect #leads #anemia #fatal #immunodeficiencies

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