Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM

BACKGROUND: Bloom syndrome is an autosomal recessive disorder characterized by extraordinary cancer incidence early in life and an average life expectancy of ~27 years. Premature stop codons in BLM, which encodes a DNA helicase that functions in DNA double‐strand‐break repair, make up the vast major...

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Detalles Bibliográficos
Autores principales: Shastri, Vivek M., Schmidt, Kristina H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707026/
https://www.ncbi.nlm.nih.gov/pubmed/26788541
http://dx.doi.org/10.1002/mgg3.188

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707026/
https://www.ncbi.nlm.nih.gov/pubmed/26788541
http://dx.doi.org/10.1002/mgg3.188

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