ArticleInternational journal of molecular sciences2023
Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?
Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Hereditary Spherocytosis: Linking Ion Transport Defects to Osmotic Gradient Ektacytometry Profiles-A Review.International journal of molecular sciences · 2026Review
- A PathogenicHuman mutation · 2026Article
- Expanding the genetic landscape ofFrontiers in genetics · 2026Article
- Three novel heterozygous ANK1 loss-of-function variants cause hereditary spherocytosis in Chinese families.Annals of hematology · 2025Article
- Neonatal hereditary spherocytosis: a case report.Italian journal of pediatrics · 2025Article
- Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort.Human genetics · 2025Article
- Two Variants of theBiomedicines · 2025Article
- Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China.Frontiers in pediatrics · 2024Article
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Authors and funding
10 authors.
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Abstract
Congenital defects of the erythrocyte membrane are common in northern Europe and all over the world. The resulting diseases, for example, hereditary spherocytosis (HS), are often underdiagnosed, partly due to their sometimes mild and asymptomatic courses. In addition to a broad clinical spectrum, this is also due to the occasionally complex diagnostics that are not available to every patient. To test whether next-generation sequencing (NGS) could replace time-consuming spherocytosis-specific functional tests, 22 consecutive patients with suspected red cell membranopathy underwent functional blood tests. We were able to identify the causative genetic defect in all patients with suspected HS who underwent genetic testing (
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