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
Acute intermittent porphyria: a disease with low penetrance and high heterogeneity.
Lei JJ et al.
Frontiers in Genetics, 2024
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
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.
Yasuda M et al.
Human Molecular Genetics, 2019
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
31572191 (PubMed )
Supplement: Table_4.xlsx › Sheet1
Select a paper to view details