DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences
Molecular analysis using MLPA could detect pathogenic mutations in 20% of FA patients, our study generated considerable data on causative mutations that was used for genetic counseling and prenatal diagnosis.
Authors
- Maha M. Eid (ORCID: https://orcid.org/0000-0001-6239-4760)
- Khalda Amr (ORCID: https://orcid.org/0000-0001-8472-5911)
- Rehab M. Mosaad (ORCID: https://orcid.org/0000-0002-5329-8897)
- Ghada El‐Kamah (ORCID: https://orcid.org/0000-0002-7739-1674)
Institutions
- National Human Genome Research Institute (US)
- Agricultural Genetic Engineering Research Institute (EG)
Publication Details
- Journal
- Journal of Genetic Engineering and Biotechnology
- Published
- 2024-11-08
- DOI
- https://doi.org/10.1016/j.jgeb.2024.100435
- Primary Topic
- DNA Repair Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Academy of Scientific Research and Technology