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Beta-talassæmi major

Non-invasiv prænatal diagnose

Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia. (åbner nyt vindue)

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

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

Indekseret‎: PubMed 22896714

DOI‎: 10.1373/clinchem.2012.189589

https://www.ncbi.nlm.nih.gov/pubmed/22896714 (åbner nyt vindue)

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis. (åbner nyt vindue)

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

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

Indekseret‎: PubMed 22517437

DOI‎: 10.1002/pd.3864

https://www.ncbi.nlm.nih.gov/pubmed/22517437 (åbner nyt vindue)