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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Detalles Bibliográficos
Autores principales: Luz, Julio Da, Ávila, Amalia, Icasuriaga, Sandra, Gongóra, María, Castillo, Luis, Serrón, Alejandra, Kimura, Elza Miyuki, Costa, Fernando Ferreira, Sans, Mónica, Sonati, Maria de Fátima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2013
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3795163/
https://www.ncbi.nlm.nih.gov/pubmed/24130436
http://dx.doi.org/10.1590/S1415-47572013005000027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3795163/
https://www.ncbi.nlm.nih.gov/pubmed/24130436
http://dx.doi.org/10.1590/S1415-47572013005000027

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