Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population

Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected patients with microcytic anemia and 28 β-thalassemia...

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Bibliographic Details
Main Authors: Julio Da Luz, Amalia Ávila, Sandra Icasuriaga, María Gongóra, Luis Castillo, Alejandra Serrón, Elza Miyuki Kimura, Fernando Ferreira Costa, Mónica Sans, Maria de Fátima Sonati
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2013-01-01
Series:Genetics and Molecular Biology
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000300003&lng=en&tlng=en