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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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| Главные авторы: | , , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BlackWell Publishing Ltd
2014
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| Предметы: | |
| Online-ссылка: | 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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