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12 p, 2.2 MB FANCA Gene Mutations in North African Fanconi Anemia Patients / Ben Haj Ali, Abir (Institut Pasteur de Tunis. Laboratory of Biomedical Genomics and Oncogenetics) ; Messaoud, Olfa (Institut Pasteur de Tunis. Laboratory of Biomedical Genomics and Oncogenetics) ; Elouej, Sahar (INSERM, MMG, UMR 1251, Aix Marseille University) ; Talmoudi, Faten (Institut Pasteur de Tunis. Laboratory of Biomedical Genomics and Oncogenetics) ; Ayed, Wiem (Institut Pasteur de Tunis. Laboratory of Biomedical Genomics and Oncogenetics) ; Mellouli, Fethi (Department of Peadiatric Immuno-Haematology, National Bone Marrow Transplantation) ; Ouederni, Monia (Department of Peadiatric Immuno-Haematology, National Bone Marrow Transplantation) ; Hadiji, Sondes (Haematology Department, Hedi Chaker Hospital, University of Sfax) ; De Sandre-Giovannoli, Annachiara (INSERM, MMG, UMR 1251, Aix Marseille University) ; Delague, Valérie (INSERM, MMG, UMR 1251, Aix Marseille University) ; Lévy, Nicolas (INSERM, MMG, UMR 1251, Aix Marseille University) ; Bogliolo, Massimo (Institut d'Investigació Biomèdica Sant Pau) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Abdelhak, Sonia (Institut Pasteur de Tunis. Laboratory of Biomedical Genomics and Oncogenetics) ; Amouri, Ahlem (Institut Pasteur de Tunis. Laboratory of Biomedical Genomics and Oncogenetics) ; Universitat Autònoma de Barcelona
Populations in North Africa (NA) are characterized by a high rate of consanguinity. Consequently, the proportion of founder mutations might be higher than expected and could be a major cause for the high prevalence of recessive genetic disorders like Fanconi anemia (FA). [...]
2021 - 10.3389/fgene.2021.610050
Frontiers in genetics, Vol. 12 (february 2021)  

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