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Mass spectrometric gene diagnosis of one base substitution from PCR amplified human collagen gene of an OI patient

โœ Scribed by H. Terunuma; T. Tsuneyoshi; Y. Naito; K. Ishikawa; Y. Koga; S. Baba; R. Arakawa; D.J. Prockop

Book ID
117640423
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
195 KB
Volume
15
Category
Article
ISSN
0945-053X

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โœ Toshihiro Tsuneyoshi; Keiichiro Ishikawa; Yoshinori Koga; Yasuhiro Naito; Shozo ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 109 KB ๐Ÿ‘ 1 views

One-base substitution has been detected on the polymerase chain reaction (PCR) products amplified from human mutated DNA for the first time by using mass spectrometry. PCR fragments of 52 base pairs were produced on a collagen gene of an osteogenesis imperfecta patient's heterozygous DNAs. The produ