Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction

Plasma DNA fragmentomics is an emerging area in cell-free DNA diagnostics and research. In murine models, it has been shown that the extracellular DNase, DNASE1L3, plays a role in the fragmentation of plasma DNA. In humans, DNASE1L3 deficiency causes familial monogenic systemic lupus erythematosus w...

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Publicado no:Am J Hum Genet
Main Authors: Chan, Rebecca W.Y., Serpas, Lee, Ni, Meng, Volpi, Stefano, Hiraki, Linda T., Tam, Lai-Shan, Rashidfarrokhi, Ali, Wong, Priscilla C.H., Tam, Lydia H.P., Wang, Yueyang, Jiang, Peiyong, Cheng, Alice S.H., Peng, Wenlei, Han, Diana S.C., Tse, Patty P.P., Lau, Pik Ki, Lee, Wing-Shan, Magnasco, Alberto, Buti, Elisa, Sisirak, Vanja, AlMutairi, Nora, Chan, K.C. Allen, Chiu, Rossa W.K., Reizis, Boris, Lo, Y.M. Dennis
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7674998/
https://ncbi.nlm.nih.gov/pubmed/33022220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.09.006
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