• Biology, Medicine
  • Published in
    Molecular genetics & genomic…
    2014
  • DOI:10.1002/mgg3.64

Candidate gene analysis using genomic quantitative PCR: identification of ADAMTS13 large deletions in two patients with Upshaw-Schulman syndrome

@inproceedings{Eura2014CandidateGA,
  title={Candidate gene analysis using genomic quantitative PCR: identification of ADAMTS13 large deletions in two patients with Upshaw-Schulman syndrome},
  author={Yuka Eura and Koichi Kokame and Toshiro Takafuta and Ryojiro Tanaka and Hikaru Kobayashi and Fumihiro Ishida and Shuichi Hisanaga and Masanori Matsumoto and Yoshihiro Fujimura and Toshiyuki Miyata},
  booktitle={Molecular genetics & genomic medicine},
  year={2014}
}
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 with severe deficiency of plasma ADAMTS13 activity. We previously analyzed ADAMTS13 in 47 USS patients… CONTINUE READING

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