Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma

Prenatal diagnosis of monogenic diseases, such as cystic fibrosis and β-thalassemia, is currently offered as part of public health programs. However, current methods based on chorionic villus sampling and amniocentesis for obtaining fetal genetic material pose a risk to the fetus. Since the discover...

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Bibliografische gegevens
Hoofdauteurs: Lun, Fiona M. F., Tsui, Nancy B. Y., Chan, K. C. Allen, Leung, Tak Y., Lau, Tze K., Charoenkwan, Pimlak, Chow, Katherine C. K., Lo, Wyatt Y. W., Wanapirak, Chanane, Sanguansermsri, Torpong, Cantor, Charles R., Chiu, Rossa W. K., Lo, Y. M. Dennis
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: National Academy of Sciences 2008
Onderwerpen:
Biological Sciences
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2596743/
https://ncbi.nlm.nih.gov/pubmed/19060211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0810373105
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