Genotyping Fanconi anemia patients from Serbia reveals three novel FANCD2 variants

Genotyping Fanconi anemia patients from Serbia reveals three novel FANCD2 variants

Fanconi anemia is rare inherited disease characterized by wide spectrum of congenital anomalies, progressive pancytopenia, and predisposition to hematological malignancies and solid tumors. Molecular genetic analysis of mutations in FANC genes is of a great importance for diagnosis confirma...

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Bibliographic Details
Main Authors: Filipović-Tričković Jelena, Mandušić Vesna, Joksić Ivana, Vujić Dragana, Valenta-Šobot Ana, Joksić Gordana
Format: Article
Language:English
Published: Serbian Genetics Society 2017-01-01
Series:Genetika
Subjects:
deep intronic variants
Fanconi anemia
FANCD2 variants
splicing mechanism
Online Access:http://www.doiserbia.nb.rs/img/doi/0534-0012/2017/0534-00121702559F.pdf

Internet

http://www.doiserbia.nb.rs/img/doi/0534-0012/2017/0534-00121702559F.pdf

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