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Beta-talassemia maior

Diagnosi prenatale non invasiva

Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia. (apre una nuova finestra)

Lam KW, Jiang P, Liao GJ, Chan KC, Leung TY, Chiu RW, Lo YM.

Fonte‎: Clin Chem 2012;58(10):1467-75.

Indicizzato‎: PubMed 22896714

DOI‎: 10.1373/clinchem.2012.189589

https://www.ncbi.nlm.nih.gov/pubmed/22896714 (apre una nuova finestra)

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis. (apre una nuova finestra)

Phylipsen M, Yamsri S, Treffers EE, Jansen DT, Kanhai WA, Boon EM, Giordano PC, Fucharoen S, Bakker E, Harteveld CL.

Fonte‎: Prenat Diagn 2012;32(6):578-87.

Indicizzato‎: PubMed 22517437

DOI‎: 10.1002/pd.3864

https://www.ncbi.nlm.nih.gov/pubmed/22517437 (apre una nuova finestra)