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 di...

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Detalhes bibliográficos
Main Authors: Eura, Yuka, Kokame, Koichi, Takafuta, Toshiro, Tanaka, Ryojiro, Kobayashi, Hikaru, Ishida, Fumihiro, Hisanaga, Shuichi, Matsumoto, Masanori, Fujimura, Yoshihiro, Miyata, Toshiyuki
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2014
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4049364/
https://ncbi.nlm.nih.gov/pubmed/24936513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.64
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