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Article

In vitro functional analysis of four variants of human asparagine synthetase.

Journal of inherited metabolic disease - 1 Sept 2021

Matsumoto Hideki, Kawashima Nana, Yamamoto Takahiro, Nakama Mina, Otsuka Hiroki, Ago Yasuhiko, Sasai Hideo, Kubota Kazuo, Ozeki Michio, Kawamoto Norio, Esaka Yukihiro, Ohnishi Hidenori

Abstract excerpt

The loss-of-function variants of the human asparagine synthetase (ASNS) gene cause asparagine synthetase deficiency (ASNSD). Diagnosis of ASNSD requires genetic tests because a specific biochemical diagnostic for ASNSD is not available. There are a few reports describing the functional evaluation of ASNS variants. Therefore, in vitro methods are needed to evaluate the detected variants in patients. In this...

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PMID: 34080208
DOI: 10.1002/jimd.12408

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