Dysfunctional DNA repair pathway via defective FANCD2 gene engenders multifarious exomic and transcriptomic effects in Fanconi anemia

BACKGROUND: Fanconi anemia (FA) affects only one in 130,000 births, but has severe and diverse clinical consequences. It has been theorized that defects in the FA DNA cross‐link repair complex lead to a spectrum of variants that are responsible for those diverse clinical phenotypes. METHODS: Using N...

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Detalles Bibliográficos
Autores principales: Velmurugan, Karthik Raja, Michalak, Pawel, Kang, Lin, Fonville, Natalie C., Garner, Harold R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305641/
https://www.ncbi.nlm.nih.gov/pubmed/30450770
http://dx.doi.org/10.1002/mgg3.502

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305641/
https://www.ncbi.nlm.nih.gov/pubmed/30450770
http://dx.doi.org/10.1002/mgg3.502

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