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Article

Preimplantation genetic diagnosis in genomic regions with duplications and pseudogenes: long-range PCR in the single-cell assay.

Human mutation - 1 May 2013

Zeevi David A, Renbaum Paul, Ron-El Raphael, Eldar-Geva Talia, Raziel Arieh, Brooks Baruch, Strassburger Dvorah, Margalioth Ehud J, Levy-Lahad Ephrat, Altarescu Gheona

Abstract excerpt

Long-range PCR is generally employed for the analysis of disease-causing mutations in genes with homologous pseudogene copies. However, long-range PCR is challenging when performed on single cells, as in preimplantation genetic diagnosis (PGD) of monogenic disorders. PGD on single cells requires concurrent analysis of a mutation together with multiple linked polymorphic markers from closely related family members...

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Identifiers

PMID: 23420578
DOI: 10.1002/humu.22298

Genes

PGD
PKD1

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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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