BRCA2 minor transcript lacking exons 4–7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation

The breast cancer gene, BRCA2, is essential for viability, yet patients with Fanconi anemia-D1 subtype are born alive with biallelic mutations in this gene. The hypomorphic nature of the mutations is believed to support viability, but this is not always apparent. One such mutation is IVS7+2T>G, w...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Thirthagiri, Eswary, Klarmann, Kimberly D., Shukla, Anil K., Southon, Eileen, Biswas, Kajal, Martin, Betty K., North, Susan Lynn, Magidson, Valentin, Burkett, Sandra, Haines, Diana C., Noer, Kathleen, Matthai, Roberta, Tessarollo, Lino, Loncarek, Jadranka, Keller, Jonathan R., Sharan, Shyam K.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2016
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5062584/
https://ncbi.nlm.nih.gov/pubmed/26920070
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw066
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