The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis

Hereditary spherocytosis (HS) is a phenotypically and genetically heterogeneous disease. With the increased use of Next Generation Sequencing (NGS) techniques in the diagnosis of red blood cell disorders, the list of unique pathogenic mutations underlying HS is growing rapidly. In this study, we aim...

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Publicado en:Hemasphere
Main Authors: van Vuren, Annelies, van der Zwaag, Bert, Huisjes, Rick, Lak, Nathalie, Bierings, Marc, Gerritsen, Egbert, van Beers, Eduard, Bartels, Marije, van Wijk, Richard
Formato: Artigo
Idioma:Inglês
Publicado: Wolters Kluwer Health 2019
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6745925/
https://ncbi.nlm.nih.gov/pubmed/31723846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/HS9.0000000000000276
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