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Article

Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations.

Human reproduction (Oxford, England) - 1 Dec 2009

Altarescu Gheona, Eldar-Geva Talia, Varshower Irit, Brooks Barry, Haran Edith Zylber, Margalioth Ehud J, Levy-Lahad Ephrat, Renbaum Paul

Abstract excerpt

BACKGROUND: Single cell diagnosis for preimplantation genetic diagnosis (PGD) requires simultaneous analysis of multiple linked polymorphic markers in addition to mutation analysis in order to reduce misdiagnosis. This type of analysis requires building family haplotypes spanning at least two generations. We present three childless couples in whom the female was a de novo mutation carrier in the Duchenne Muscular...

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Source

Identifiers

PMID: 19687056
DOI: 10.1093/humrep/dep293

Genes

PGD
DMD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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