Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
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Oka Y, et al. Among authors: mitsutake n.
Sci Adv. 2020 Dec 18;6(51):eabd7197. doi: 10.1126/sciadv.abd7197. Print 2020 Dec.
Sci Adv. 2020.
PMID: 33355142
Free PMC article.