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Helene J Bustad1, Marthe S Christie1, Mikko Laitaoja2

  • 1Norwegian Porphyria Centre (NAPOS), Department for Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway.

The FEBS journal
|October 20, 2023
PubMed
概括

基甲基双合成酶 (HMBS) 突变通过改变酶中间体而影响血生物合成. Arg167影响延长,而Arg195影响产品释放,提供了对急性间歇性皮症的见解.