Associated Papers
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
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.
Chen B et al.
Human Mutation, 2016
Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis.
Ulbrichova-Douderova D et al.
Analytical Biochemistry, 2009
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
Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.
Schneider-Yin X et al.
Journal of Inherited Metabolic Disease, 2004
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
Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.
Schneider-Yin X et al.
Human Heredity, 2002
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.
Robreau-Fraolini AM et al.
Human Genetics, 2000
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
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
Puy H et al.
American Journal of Human Genetics, 1997
Porphobilinogen deaminase gene structure and molecular defects.
Deybach JC et al.
Journal of Bioenergetics and Biomembranes, 1995
Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.
Ong PM et al.
Human Heredity, 0