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First trimester prenatal diagnosis of haemophilia a using factor VIII gene probe

✍ Scribed by Akira Yoshioka; Hiroyuki Naka; Takuya Nishimura; Kuninori Kuze; Ichiro Tanaka; Sadaaki Mikami; Masahiko Matsumoto; Keiichiro Yoshioka; Hiromu Fukui


Publisher
Nature Publishing Group
Year
1989
Tongue
English
Weight
485 KB
Volume
34
Category
Article
ISSN
1435-232X

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A combination of Southern blotting and the analysis of polymerase chain reaction (PCR) amplified DNA fragments was used to screen the factor VIII genes of 527 haemophilia A patients for point mutations within TaqI restriction sites. Since this "directed search" strategy yielded only four gene lesion