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

IF 8.1 1区生物学 Q1 GENETICS & HEREDITY

American journal of human genetics Pub Date : 2025-05-01 DOI:10.1016/j.ajhg.2025.04.001

Rebecca W Y Chan, Lee Serpas, Meng Ni, Stefano Volpi, Linda T Hiraki, Lai-Shan Tam, Ali Rashidfarrokhi, Priscilla C H Wong, Lydia H P Tam, Yueyang Wang, Peiyong Jiang, Alice S H Cheng, Wenlei Peng, Diana S C Han, Patty P P Tse, Pik Ki Lau, Wing-Shan Lee, Alberto Magnasco, Elisa Buti, Vanja Sisirak, Nora AlMutairi, K C Allen Chan, Rossa W K Chiu, Boris Reizis, Y M Dennis Lo

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血浆DNA谱与DNASE1L3基因突变相关：临床观察，与核酸酶底物偏好的关系，以及体内校正。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

American journal of human genetics 生物-遗传学

CiteScore

14.70

自引率

4.10%

发文量

185

审稿时长

1 months

期刊介绍： The American Journal of Human Genetics (AJHG) is a monthly journal published by Cell Press, chosen by The American Society of Human Genetics (ASHG) as its premier publication starting from January 2008. AJHG represents Cell Press's first society-owned journal, and both ASHG and Cell Press anticipate significant synergies between AJHG content and that of other Cell Press titles.