Rapid detection of deletion mutations in inherited metabolic diseases by melting curve analysis with LightCycler.
Aoshima
T
T
Department of Pediatrics, Nagoya University School of Medicine, 65 Tsuruma-Cho, Showa-ku, Nagoya 466-8550, Japan. taoshima@med.nagoya-u.ac.jp
Sekido
Y
Y
Miyazaki
T
T
Kajita
M
M
Mimura
S
S
Watanabe
K
K
Shimokata
K
K
Niwa
T
T
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
D018076:DNA, Complementary; D005456:Fluorescent Dyes; D000519:alpha-Galactosidase; D002222:Carbamoyl-Phosphate Synthase (Ammonia)