Targeted next-generation sequencing identification of mutations in patients with disorders of sex development

BACKGROUND: The identification of causative mutations is important for treatment decisions and genetic counseling of patients with disorders of sex development (DSD). Here, we designed a new assay based on targeted next-generation sequencing (NGS) to diagnose these genetically heterogeneous disorder...

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Detalles Bibliográficos
Autores principales: Dong, Yanling, Yi, Yuting, Yao, Hong, Yang, Ziying, Hu, Huamei, Liu, Jiucheng, Gao, Changxin, Zhang, Ming, Zhou, Liying, Asan, Yi, Xin, Liang, Zhiqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4791760/
https://www.ncbi.nlm.nih.gov/pubmed/26980296
http://dx.doi.org/10.1186/s12881-016-0286-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4791760/
https://www.ncbi.nlm.nih.gov/pubmed/26980296
http://dx.doi.org/10.1186/s12881-016-0286-2

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