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Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function
Hydroxymethylbilane synthase (HMBS) is the third enzyme involved in haem biosynthesis, in which it catalyses the formation of tetrapyrrole 1‐hydroxymethylbilane (HMB). In this process, HMBS binds four consecutive substrate molecules, creating the enzyme‐intermediate complexes ES, ES(2), ES(3) and ES...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9714363/ https://www.ncbi.nlm.nih.gov/pubmed/36115019 http://dx.doi.org/10.1002/2211-5463.13490 |