One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-018-21236-w.pdf
Reference28 articles.
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2. Lau, K. T. et al. [Outcome of 1,355 consecutive transabdominal chorionic villus samplings in 1,351 patients]. Chinese medical journal 118, 1675–1681 (2005).
3. Tabor, A. et al. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet (London, England) 1, 1287–1293 (1986).
4. Chen, Y. et al. Development and validation of a fetal genotyping assay with potential for noninvasive prenatal diagnosis of hereditary hearing loss. Prenatal diagnosis 36, 1233–1241 (2016).
5. Han, M. et al. A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations. Genetics in medicine: official journal of the American College of Medical Genetics (2017).
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