Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
American Journal of Human Genetics, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
Biorxiv : the Preprint Server for Biology, 2023
Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review.
Ren Y et al.
Frontiers in Genetics, 2023
Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.
Hu Y et al.
Clinical Genetics, 2022
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Bustad HJ et al.
International Journal of Molecular Sciences, 2021
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
Hrdinka M et al.
Physiological Research, 2006
Gene-environmental interactions: Lessons from porphyria.
Sassa S
Environmental Health and Preventive Medicine, 2003
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.
Kauppinen R et al.
Clinical Chemistry, 2002
Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.
Whatley SD et al.
Human Genetics, 1999
Review: molecular pathogenesis of hepatic acute porphyrias.
Grandchamp B et al.
Journal of Gastroenterology and Hepatology, 1996
The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.
Brownlie PD et al.
Protein Science : a Publication of the Protein Society, 1994
Identification of five novel mutations in the porphobilinogen deaminase gene.
Mgone CS et al.
Human Molecular Genetics, 1994
Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
Astrin KH et al.
Human Mutation, 1994
Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.
Mgone CS et al.
Human Genetics, 0