Article
A novel missense mutation in two families with congenital plasminogen deficiency: identification of an Ala675 to Thr675 substitution.
Thrombosis and haemostasis - 1 Jan 1996
Mima N, Azuma H, Shigekiyo T, Saito S
Abstract excerpt
We used a polymerase chain reaction (PCR) strategy and restriction fragment polymorphism analysis to evaluate all 19 exons of the plasminogen (PLG) gene in a Japanese patient with congenital PLG deficiency and her family members (family C). Sequence analysis following amplification of each exon and its flanking regions showed a single G to A transition in exon 17, resulting in the conversion of an Ala675 codon...
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