Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia

BACKGROUND: Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome. However, establishing its molecular diagnosis remains challenging. Chromosomal breakage analysis is the gold standard diagnostic test for this disease. Nevertheless, molecular analysis is always required for t...

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Detalles Bibliográficos
Autores principales: Repczynska, Anna, Julga, Katarzyna, Skalska-Sadowska, Jolanta, Kacprzak, Magdalena M., Bartoszewska-Kubiak, Alicja, Lazarczyk, Ewelina, Loska, Damian, Drozniewska, Malgorzata, Czerska, Kamila, Wachowiak, Jacek, Haus, Olga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295492/
https://www.ncbi.nlm.nih.gov/pubmed/35854323
http://dx.doi.org/10.1186/s13023-022-02424-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295492/
https://www.ncbi.nlm.nih.gov/pubmed/35854323
http://dx.doi.org/10.1186/s13023-022-02424-4

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