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Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.

Marshall Lukacs, Jonathan Gilley, Yi Zhu +9 more · 2019 · Experimental neurology · Elsevier · added 2026-04-24

Marshall Lukacs, Jonathan Gilley, Yi Zhu, Giuseppe Orsomando, Carlo Angeletti, Jiaqi Liu, Xiuna Yang, Joun Park, Robert J Hopkin, Michael P Coleman, R Grace Zhai, Rolf W Stottmann Show less

The three nicotinamide mononucleotide adenylyltransferase (NMNAT) family members synthesize the electron carrier nicotinamide adenine dinucleotide (NAD

📄 PDF DOI: 10.1016/j.expneurol.2019.112961

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👤 Rolf W Stottmann

Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.