Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria
The rare autosomal dominant disorder acute intermittent porphyria (AIP) is caused by the deficient activity of hydroxymethylbilane synthase (HMBS). The symptoms of AIP are acute neurovisceral attacks which are induced by the dysfunction of heme biosynthesis. To better interpret the underlying mechan...
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Frontiers Media S.A.,
2019-09-01T00:00:00Z.
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