Associated Papers
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
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
Acute intermittent porphyria: prevalence of pathogenic HMBS variants in China, and epidemiological survey in Hebei Province, China.
Ma L et al.
Annals of Translational Medicine, 2022
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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