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Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma

PURPOSE: To perform a reliable non-invasive detection of the fetal achondroplasia using maternal plasma. METHODS: We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detection of the FGFR3 mutation (G1138A) causing achondroplasia. This method was applied in...

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Detalhes bibliográficos
Main Authors: Lim, Ji Hyae, Kim, Mee Jin, Kim, Shin Young, Kim, Hye Ok, Song, Mee Jin, Kim, Min Hyoung, Park, So Yeon, Yang, Jae Hyug, Ryu, Hyun Mee
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3059531/
https://ncbi.nlm.nih.gov/pubmed/20963478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-010-9489-1
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