title: Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.
abstract: Mutation screening in 90 unrelated ADPKD1 patients was carried out on some of the exons in the single copy area (37, 38, 39, 44, 45) using genomic PCR and SSCP. Four novel mutations were found: a 15 bp in-frame deletion in exon 39 [nt11449 (del 15)], a 2 bp deletion in exon 44 [nt12252 (del 2)], a G insertion in exon 44 [nt12290 (Ins G)], and a GTT in-frame deletion in exon 45 [nt12601 (del 3)].
authors.affiliation: Department of Medical Genetics, St. George's Hospital Medical School, London, UK.
authors.forename: A R
authors.initials: AR
authors.lastname: Afzal
authors.forename: M
authors.initials: M
authors.lastname: Hand
authors.forename: E
authors.initials: E
authors.lastname: Ternes-Pereira
authors.forename: A
authors.initials: A
authors.lastname: Saggar-Malik
authors.forename: R
authors.initials: R
authors.lastname: Taylor
authors.forename: S
authors.initials: S
authors.lastname: Jeffery
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D050396:TRPP Cation Channels
chemical_list: D011506:Proteins; D050396:TRPP Cation Channels