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Article

COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma.

Journal of medical genetics - 1 Jul 2016

Galbiati Silvia, Monguzzi Alessandra, Damin Francesco, Soriani Nadia, Passiu Marianna, Castellani Carlo, Natacci Federica, Curcio Cristina, Seia Manuela, Lalatta Faustina, Chiari Marcella, Ferrari Maurizio, Cremonesi Laura

Abstract excerpt

BACKGROUND: Until now, non-invasive prenatal diagnosis of genetic diseases found only limited routine applications. In autosomal recessive diseases, it can be used to determine the carrier status of the fetus through the detection of a paternally inherited disease allele in cases where maternal and paternal mutated alleles differ. METHODS: Conditions for non-invasive identification of fetal paternally inherited...

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PMID: 26912453
DOI: 10.1136/jmedgenet-2015-103229

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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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