DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences

DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences

Background: Fanconi anemia is a genetically heterogeneous recessive disorder distinguished by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and disturbed DNA repair. To date, Fanconi anemia complementation group (FANC) includes 23 FANC genes id...

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Bibliographic Details
Main Authors: Rehab Mosaad, Ghada El-Kamah, Maha Eid, Khalda Amr
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Journal of Genetic Engineering and Biotechnology
Subjects:
Fanconi anemia
FANCA gene
Deletion mutation
MLPA
Online Access:http://www.sciencedirect.com/science/article/pii/S1687157X24001380
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