Article
Balearic archipelago: three islands, three beta-thalassemia population patterns.
Clinical genetics - 1 Feb 2013
López-Escribano H, Parera M M, Guix P, Serra J M, Gutierrez A, Balsells D, Oliva-Berini E, Castro J A, Ramon M M, Picornell A
Abstract excerpt
The mutation spectrum of 175 β-thalassemia (β-thal) carriers, identified in pilot carrier screening on 22,713 individuals from Balearic Islands (Spain), is reported. The β(0) CD39 (C>T) mutation is the most frequent (61.1%), followed by β(+) IVS-I-110 (G>A) (12.0%), β(+) IVS-I-6 (T>C) and β(0) IV...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.