Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia
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 t...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Anna Repczynska, Katarzyna Julga, Jolanta Skalska-Sadowska, Magdalena M. Kacprzak, Alicja Bartoszewska-Kubiak, Ewelina Lazarczyk, Damian Loska, Malgorzata Drozniewska, Kamila Czerska, Jacek Wachowiak and Olga Haus Tags: Research Source Type: research
More News: Anemia | Bone Marrow Failure Syndrome (BMFS) | Faconi Anemia | Genetics | Internal Medicine | Poland Health | Rare Diseases