Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia

Whole-exome sequencing (WES) has been increasingly useful for the diagnosis of patients with rare causes of anemia, particularly when there is an atypical clinical presentation or targeted genotyping approaches are inconclusive. Here, we describe a 20-yr-old man with a lifelong moderate-to-severe an...

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Detalles Bibliográficos
Autores principales: Steinberg-Shemer, Orna, Ulirsch, Jacob C., Noy-Lotan, Sharon, Krasnov, Tanya, Attias, Dina, Dgany, Orly, Laor, Ruth, Sankaran, Vijay G., Tamary, Hannah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701307/
https://www.ncbi.nlm.nih.gov/pubmed/28667000
http://dx.doi.org/10.1101/mcs.a001941

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