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A Minimal Set of SNPs for the Noninvasive Prenatal Diagnosis of β -Thalassaemia

✍ Scribed by Papasavva, Thessalia E.; Lederer, Carsten W.; Traeger-Synodinos, Jan; Mavrou, Ariadne; Kanavakis, Emmanuel; Ioannou, Christiana; Makariou, Christiana; Kleanthous, Marina

Book ID
121854944
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
866 KB
Volume
77
Category
Article
ISSN
0003-4800

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Prenatal diagnosis of β-thalassaemia: ex
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✍ Renu Saxena; Pawan K. Jain; Elizabeth Thomas; Ishwar C. Verma 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 75 KB 👁 1 views

We present our experience with the amplification refractory mutation system (ARMS) for the prenatal diagnosis of -thalassaemia in 415 pregnancies of 360 women. Five mutations of the -thalassaemia gene common in Asian Indians accounted for 89•2 per cent and rare mutations for 7•2 per cent of all muta