Non-invasive prenatal testing of pregnancies at risk for phenylketonuria.
| Author | |
|---|---|
| Abstract |
:
Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART). |
| Year of Publication |
:
2018
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| Journal |
:
Archives of disease in childhood. Fetal and neonatal edition
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| Date Published |
:
2018
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| ISSN Number |
:
1359-2998
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| URL |
:
http://fn.bmj.com/cgi/pmidlookup?view=long&pmid=29353259
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| DOI |
:
10.1136/archdischild-2017-313929
|
| Short Title |
:
Arch Dis Child Fetal Neonatal Ed
|
| Download citation |
