title: Two new polymorphisms in introns 2 and 3 of the human porphobilinogen deaminase gene.
abstract: Sequencing of the polymerase chain reaction amplified exon 2-4 fragment of the human porphobilinogen deaminase gene revealed a G/T polymorphism (I2G and I2T) in intron 2, and a G/A polymorphism (I3G and I3A) in intron 3 of the gene. The frequencies of these alleles are presented.
authors.affiliation: Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Daimon
authors.forename: Y
authors.initials: Y
authors.lastname: Morita
authors.forename: K
authors.initials: K
authors.lastname: Yamatani
authors.forename: M
authors.initials: M
authors.lastname: Igarashi
authors.forename: N
authors.initials: N
authors.lastname: Fukase
authors.forename: H
authors.initials: H
authors.lastname: Ohnuma
authors.forename: K
authors.initials: K
authors.lastname: Sugiyama
authors.forename: A
authors.initials: A
authors.lastname: Ogawa
authors.forename: H
authors.initials: H
authors.lastname: Manaka
authors.forename: M
authors.initials: M
authors.lastname: Tominaga
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002880:Chromosomes, Human, Pair 11; D005787:Gene Frequency; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D007438:Introns; D007564:Japan; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D011163:Hydroxymethylbilane Synthase