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  • A deep intronic mutation causes RAD50 deficiency through an unusual mechanism…

A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation

This study identifies and characterizes a novel type of splicing mutation in RAD50 deficiency, a rare genetic disorder.

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Published in:
The journal of clinical investigation
Vol. 135, No. 3 (2024)Art.-No.:e178528
Volume:
135
No.:
3
Date Issued:
2024
DOI:
10.1172/JCI178528
Other identifier (pubmed):
39666384
Language:
English
Type of Resource:
Text
Publisher:
American Society for Clinical Investigation
Keywords:
  1. Humans
    Typ
    Schlagwort
  1. DNA Repair Enzymes
    Typ
    Schlagwort
  1. Acid Anhydride Hydrolases
    Typ
    Schlagwort
  1. DNA-Binding Proteins
    Typ
    Schlagwort
  1. RNA Splicing
    Typ
    Schlagwort
  1. Mutation
    Typ
    Schlagwort
  1. Introns
    Typ
    Schlagwort
  1. Exons
    Typ
    Schlagwort
  1. Female
    Typ
    Schlagwort
  1. Male
    Typ
    Schlagwort
  1. Genetics
    Typ
    Schlagwort
  1. Cell biology
    Typ
    Schlagwort
  1. DNA repair
    Typ
    Schlagwort
  1. RNA processing
    Typ
    Schlagwort
  1. Genetic diseases
    Typ
    Schlagwort
DDC subject of DNB:
610 Medical sciences Medicine
URL:
https://europepmc.org/articles/PMC11785915
Hosting institution:
Hospitals and Institutes, Department of Gynecology and Obstetrics
publications:
Erschienen in: J Clin Invest 2024;135(3):e178528 https://doi.org/10.1172/JCI178528
funding:
Veröffentlichung gefördert aus dem Publikationsfonds der MHH 2025.

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