Article
Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing (NGS) and non‑invasive prenatal testing (NIPT).
Molecular medicine reports - 1 Mar 2017
Zhu Li, Cheng Jingliang, Zhou Boxu, Wei Chunli, Yang Weichan, Jiang Dong, Ijaz Iqra, Tan Xiaojun, Chen Rui, Fu Junjiang
Abstract excerpt
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, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction...
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