Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report
Fanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair. It is characterized by congenital malformations, bo...
Source: Molecular Cytogenetics - Category: Molecular Biology Authors: Anna Repczynska, Agata Pastorczak, Katarzyna Babol-Pokora, Jolanta Skalska-Sadowska, Malgorzata Drozniewska, Wojciech Mlynarski and Olga Haus Tags: Case Report Source Type: research
More News: Anemia | Faconi Anemia | Gastroschisis Repair | Genetics | Molecular Biology | Poland Health