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American Association for the Advancement of Science, Science Advances, 51(6), 2020

DOI: 10.1126/sciadv.abd7197

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Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome

Journal article published in 2020 by Yasuyoshi Oka ORCID, Motoharu Hamada ORCID, Yuka Nakazawa, Hideki Muramatsu, Yusuke Okuno ORCID, Koichiro Higasa, Mayuko Shimada, Honoka Takeshima, Katsuhiro Hanada, Taichi Hirano ORCID, Toshiro Kawakita, Hirotoshi Sakaguchi ORCID, Takuya Ichimura ORCID, Shuichi Ozono ORCID, Kotaro Yuge ORCID and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Malfunctions in the formaldehyde clearance processes induce DNA damage and overload the DNA repair system and cause AMeD syndrome.