Candidate gene analysis using genomic quantitative PCR to complement direct sequencing
نویسندگان
چکیده
منابع مشابه
Candidate gene analysis using genomic quantitative PCR: identification of ADAMTS13 large deletions in two patients with Upshaw-Schulman syndrome
Direct sequencing is a popular method to discover mutations in candidate genes responsible for hereditary diseases. A certain type of mutation, however, can be missed by the method. Here, we report a comprehensive genomic quantitative polymerase chain reaction (qPCR) to complement the weakness of direct sequencing. Upshaw-Schulman syndrome (USS) is a recessively inherited disease associated wit...
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ژورنال
عنوان ژورنال: Japanese Journal of Thrombosis and Hemostasis
سال: 2014
ISSN: 0915-7441,1880-8808
DOI: 10.2491/jjsth.25.615