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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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Steinberg-Shemer, Orna, Ulirsch, Jacob C., Noy-Lotan, Sharon, Krasnov, Tanya, Attias, Dina, Dgany, Orly, Laor, Ruth, Sankaran, Vijay G., Tamary, Hannah
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2017
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5701307/
https://ncbi.nlm.nih.gov/pubmed/28667000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001941
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