A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions

BACKGROUND AND AIMS: Large indels are commonly identified in patients but are not detectable by routine Sanger sequencing and panel sequencing. We specially designed a multi-gene panel that could simultaneously test known large indels in addition to ordinary variants, and reported the diagnostic yie...

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Detalles Bibliográficos
Autores principales: Wang, Neng-Li, Lu, Yu-Lan, Zhang, Ping, Zhang, Mei-Hong, Gong, Jing-Yu, Lu, Yi, Xie, Xin-Bao, Qiu, Yi-Ling, Yan, Yan-Yan, Wu, Bing-bing, Wang, Jian-She
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5051675/
https://www.ncbi.nlm.nih.gov/pubmed/27706244
http://dx.doi.org/10.1371/journal.pone.0164058

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5051675/
https://www.ncbi.nlm.nih.gov/pubmed/27706244
http://dx.doi.org/10.1371/journal.pone.0164058

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