title: Rapid detection of deletion mutations in inherited metabolic diseases by melting curve analysis with LightCycler.
authors.affiliation: Department of Pediatrics, Nagoya University School of Medicine, 65 Tsuruma-Cho, Showa-ku, Nagoya 466-8550, Japan. taoshima@med.nagoya-u.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Aoshima
authors.forename: Y
authors.initials: Y
authors.lastname: Sekido
authors.forename: T
authors.initials: T
authors.lastname: Miyazaki
authors.forename: M
authors.initials: M
authors.lastname: Kajita
authors.forename: S
authors.initials: S
authors.lastname: Mimura
authors.forename: K
authors.initials: K
authors.lastname: Watanabe
authors.forename: K
authors.initials: K
authors.lastname: Shimokata
authors.forename: T
authors.initials: T
authors.lastname: Niwa
mesh_terms: D000293:Adolescent; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics*; D005456:Fluorescent Dyes; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D005456:Fluorescent Dyes; D000519:alpha-Galactosidase; D002222:Carbamoyl-Phosphate Synthase (Ammonia)