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

0303 health sciences 03 medical and health sciences Research Articles 3. Good health
DOI: 10.1126/sciadv.abd7197 Publication Date: 2020-12-22T23:13:32Z
Abstract Supplemental Material References Cited by
AUTHORS (41)
Yasuyoshi Oka
Motoharu Hamada
Yuka Nakazawa
Hideki Muramatsu
Yusuke Okuno
Koichiro Higasa
Mayuko Shimada
Honoka Takeshima
Katsuhiro Hanada
Taichi Hirano
Toshiro Kawakita
Hirotoshi Sakaguchi
Takuya Ichimura
Shuichi Ozono
Kotaro Yuge
Yoriko Watanabe
Yuko Kotani
Mutsumi Yamane
Yumiko Kasugai
Miyako Tanaka
Takayoshi Suganami
Shinichiro Nakada
Norisato Mitsutake
Yuichiro Hara
Kohji Kato
Seiji Mizuno
Noriko Miyake
Yosuke Kawai
Katsushi Tokunaga
Masao Nagasaki
Seiji Kito
Keiichi Isoyama
Masafumi Onodera
Hideo Kaneko
Naomichi Matsumoto
Fumihiko Matsuda
Keitaro Matsuo
Yoshiyuki Takahashi
Tomoji Mashimo
Seiji Kojima
Tomoo Ogi
ABSTRACT
Malfunctions in the formaldehyde clearance processes induce DNA damage and overload the DNA repair system and cause AMeD syndrome.
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Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome 
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