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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2008
Matèries:
Biological Sciences
Accés en línia: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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