Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities

Fanconi anemia is a genetically and phenotypically heterogeneous disorder characterized by congenital anomalies, bone marrow failure, cancer, and sensitivity of chromosomes to DNA cross-linking agents. One of the 22 genes responsible for Fanconi anemia is BRIP1, in which biallelic truncating mutatio...

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Detalles Bibliográficos
Autores principales: Kamal, Lara, Pierce, Sarah B., Canavati, Christina, Rayyan, Amal Abu, Jaraysa, Tamara, Lobel, Orit, Lolas, Suhair, Norquist, Barbara M., Rabie, Grace, Zahdeh, Fouad, Levy-Lahad, Ephrat, King, Mary-Claire, Kanaan, Moien N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552932/
https://www.ncbi.nlm.nih.gov/pubmed/33028645
http://dx.doi.org/10.1101/mcs.a005652

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552932/
https://www.ncbi.nlm.nih.gov/pubmed/33028645
http://dx.doi.org/10.1101/mcs.a005652

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