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Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria
Acute intermittent porphyria (AIP) is an inborn error of heme biosynthesis due to the deficiency of hydroxymethylbilane synthase (HMBS) activity. Human AIP heterozygotes have episodic acute neurovisceral attacks that typically start after puberty, whereas patients with homozygous dominant AIP (HD-AI...
Shranjeno v:
| izdano v: | Hum Mol Genet |
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| Main Authors: | , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Oxford University Press
2019
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6522063/ https://ncbi.nlm.nih.gov/pubmed/30615115 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz003 |
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