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A novel β-thalassemia mutation: Frameshift at codon 59 detected in an Italian carrier

✍ Scribed by Alessandra Meloni; Maria Demurtas; Loredana Moi; Valeria Faà; Antonio Cao; Maria Cristina Rosatelli


Book ID
102260112
Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
340 KB
Volume
3
Category
Article
ISSN
1059-7794

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✍ Barry Eng; David H. K. Chui; Janet Saunderson; Nancy F. Olivieri; John S. Waye 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 467 KB

The frequency of P-thalassemia alleles among Filipinos is estimated to be 0.02, although little is known about the actual mutations represented in this population. Here, we describe a Filipino family in which a child has severe P-thalassemia major. Molecular studies of the family revealed that the p