title: Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction?
authors.affiliation: Department of Genetics, Hopital Broussais, Paris, France. dominique.germain@brs.ap-hop-paris.fr
authors.forename: D P
authors.initials: DP
authors.lastname: Germain
authors.forename: V
authors.initials: V
authors.lastname: Remones
authors.forename: J
authors.initials: J
authors.lastname: Perdu
authors.forename: X
authors.initials: X
authors.lastname: Jeunemaitre
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D001483:Base Sequence; D003596:Cytosine; D004252:DNA Mutational Analysis; D018432:Drug Resistance, Multiple / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005820:Genetic Testing; D006147:Guanine; D006801:Humans; D008239:Lysine / Q000235:genetics; D027425:ATP-Binding Cassette, Sub-Family C Proteins; D011110:Polymorphism, Genetic / Q000235:genetics*; D011561:Pseudoxanthoma Elasticum / Q000235:genetics*; D013941:Thymine; D014364:Tryptophan / Q000235:genetics
chemical_list: D018528:ATP-Binding Cassette Transporters; D001120:Arginine; D003596:Cytosine; D006147:Guanine; D008239:Lysine; D027425:ATP-Binding Cassette, Sub-Family C Proteins; D013941:Thymine; D014364:Tryptophan