TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome

Cancer-prone syndrome of premature chromatid separation with mosaic variegated aneuploidy [PCS (MVA) syndrome] is a rare autosomal recessive disorder characterized by constitutional aneuploidy and a high risk of childhood cancer. We previously reported monoallelic mutations in the BUB1B gene (encodi...

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Detalhes bibliográficos
Main Authors: Ochiai, Hiroshi, Miyamoto, Tatsuo, Kanai, Akinori, Hosoba, Kosuke, Sakuma, Tetsushi, Kudo, Yoshiki, Asami, Keiko, Ogawa, Atsushi, Watanabe, Akihiro, Kajii, Tadashi, Yamamoto, Takashi, Matsuura, Shinya
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2014
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3910577/
https://ncbi.nlm.nih.gov/pubmed/24344301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1317008111
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