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Article

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

Journal of assisted reproduction and genetics - 1 Feb 2011

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

Abstract excerpt

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 a non-invasive detection of the fetal achondroplasia using circulating fetal-DNA (cf-DNA) in maternal plasma....

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Source

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Identifiers

PMID: 20963478
DOI: 10.1007/s10815-010-9489-1
PMCID: PMC3059531

Genes

FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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