Associated Papers
Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.
Loughrey PB et al.
European Journal of Endocrinology, 2025
40070360 (PubMed )
Supplement: lvaf044_supplementary_data.docx
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
American Journal of Human Genetics, 2023
37729906 (PubMed )
Supplement: mmc2.xlsx › Enz._Activity_
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
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
31572191 (PubMed )
Supplement: Table_4.xlsx › Sheet1
Risk category system to identify pituitary adenoma patients with AIP mutations.
Caimari F et al.
Journal of Medical Genetics, 2018
29440248 (PubMed )
Supplement: jmedgenet-2017-104957supp001.docx
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.
Hernández-Ramírez LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.
Floderus Y et al.
Clinical Genetics, 2002
Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.
Chen CH et al.
The Journal of Clinical Investigation, 1994
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