Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka

Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka

Abstract β thalassaemia intermedia (βTI) are a heterogeneous group of disorders known to be extremely phenotypically diverse. This group is more complex to manage as no definitive treatment guidelines exist unlike for β thalassaemia major (βTM). There are only a few studies looking at genotype pheno...

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Autores principales: Shiromi Perera, Angela Allen, Ishari Silva, Menaka Hapugoda, M. Nirmali Wickramarathne, Indira Wijesiriwardena, Stephen Allen, David Rees, Dimitar G. Efremov, Christopher A. Fisher, David J. Weatherall, Anuja Premawardhena
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/6778d9b209994bc0ba59c70f57f95b78
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