Rapid screening of copy number variations in STRC by droplet digital PCR in patients with mild-to-moderate hearing loss

Copy number variations (CNVs) are commonly reported in STRC, the causal gene for DFNB16. Various techniques are used clinically for CNV detection, and droplet digital PCR (ddPCR) provides highly precise absolute quantification of DNA copy number. We aimed to validate the feasibility and efficiency o...

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Detalles Bibliográficos
Autores principales: Ito, Taku, Kawashima, Yoshiyuki, Fujikawa, Taro, Honda, Keiji, Makabe, Ayane, Kitamura, Ken, Tsutsumi, Takeshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804619/
https://www.ncbi.nlm.nih.gov/pubmed/31645979
http://dx.doi.org/10.1038/s41439-019-0075-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804619/
https://www.ncbi.nlm.nih.gov/pubmed/31645979
http://dx.doi.org/10.1038/s41439-019-0075-5

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