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Article

Genotyping of β-globin gene mutations in single lymphocytes: a preliminary study for preimplantation genetic diagnosis of monogenic disorders.

Hemoglobin - 1 Jan 2012

Durmaz Burak, Ozkinay Ferda, Onay Huseyin, Karaca Emin, Aydinok Yesim, Tavmergen Erol, Vrettou Christina, Traeger-Synodinos Jan, Kanavakis Emmanuel

Abstract excerpt

Hemoglobinopathies, especially β-thalassemia (β-thal), represent an important health burden in Mediterranean countries like Turkey. Some couples prefer the option of preimplantation genetic diagnosis (PGD). However, clinical application of PGD, especially for the monogenic disorders is technically demanding. To ensure reliable results, protocols need to be robust and well standardized. Ideally PGD-PCR (polymerase...

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Source

Identifiers

PMID: 22524255
DOI: 10.3109/03630269.2012.675891

Genes

PGD
ADO
GABRB3

Provenance

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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