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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Detalles Bibliográficos
Autores principales: Eura, Yuka, Kokame, Koichi, Takafuta, Toshiro, Tanaka, Ryojiro, Kobayashi, Hikaru, Ishida, Fumihiro, Hisanaga, Shuichi, Matsumoto, Masanori, Fujimura, Yoshihiro, Miyata, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049364/
https://www.ncbi.nlm.nih.gov/pubmed/24936513
http://dx.doi.org/10.1002/mgg3.64

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049364/
https://www.ncbi.nlm.nih.gov/pubmed/24936513
http://dx.doi.org/10.1002/mgg3.64

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