Diagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT)

To develop an effective strategy to isolate and use cell-free fetal DNA (cffDNA) for the combined use of next-generation sequencing (NGS) for diagnosing choroideremia and non-invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X-linked recessive disease, c...

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Detalhes bibliográficos
Publicado no:Mol Med Rep
Main Authors: Zhu, Li, Cheng, Jingliang, Zhou, Boxu, Wei, Chunli, Yang, Weichan, Jiang, Dong, Ijaz, Iqra, Tan, Xiaojun, Chen, Rui, Fu, Junjiang
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2017
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5367376/
https://ncbi.nlm.nih.gov/pubmed/28098911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2017.6119
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