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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Detalles Bibliográficos
Autores principales: van Vuren, Annelies, van der Zwaag, Bert, Huisjes, Rick, Lak, Nathalie, Bierings, Marc, Gerritsen, Egbert, van Beers, Eduard, Bartels, Marije, van Wijk, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745925/
https://www.ncbi.nlm.nih.gov/pubmed/31723846
http://dx.doi.org/10.1097/HS9.0000000000000276

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745925/
https://www.ncbi.nlm.nih.gov/pubmed/31723846
http://dx.doi.org/10.1097/HS9.0000000000000276

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