Congenital Plasminogen Deficiency Caused by a SerS 7 * to Pro Mutation
نویسندگان
چکیده
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. She presented with cerebral infarction. Sequence analysis following amplification of each exon and its flanking regions showed a single T to C transition in exon 14, which changed a Se?72 codon (TCC) to Pro5” codon (CCC). Since this mutation generates a new Fok I site, the Fok I digestion pattern of the PCR-amplified exon
منابع مشابه
Mutation Congenital Plasminogen Deficiency Caused by a Ser572 to Pro
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متن کاملCongenital plasminogen deficiency caused by a Ser572 to Pro mutation.
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. She presented with cerebral infarction. Sequence analysis following amplification of each exon and its flanking regions showed a single T to C transition in exon 14, w...
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