Associated Papers
Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient.
Wang X et al.
Frontiers in Genetics, 2023
38192441 (PubMed )
Supplement: Table1.XLSX › Sheet2
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Chen B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
Chen B et al.
Journal of Inherited Metabolic Disease, 2019
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