Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG

Fanconi anemia (FA) is a rare genetic disorder caused by pathogenic variants (PV) in at least 22 genes, which cooperate in the Fanconi anemia/Breast Cancer (FA/BRCA) pathway to maintain genome stability. PV in FANCA, FANCC, and FANCG account for most cases (~90%). This study evaluated the chromosoma...

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Detalles Bibliográficos
Autores principales: Reyes, Pedro, García-de Teresa, Benilde, Juárez, Ulises, Pérez-Villatoro, Fernando, Fiesco-Roa, Moisés O., Rodríguez, Alfredo, Molina, Bertha, Villarreal-Molina, María Teresa, Meléndez-Zajgla, Jorge, Carnevale, Alessandra, Torres, Leda, Frias, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8877758/
https://www.ncbi.nlm.nih.gov/pubmed/35216452
http://dx.doi.org/10.3390/ijms23042334

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