ArticleGenetics and molecular biology2010
Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation.
Article in Genetics and molecular biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 9 citations in OpenAlex.
- Expanding the genetic landscape ofFrontiers in genetics · 2026Article
- A Child With Hereditary Spherocytosis Associated With Von Willebrand's Disease: A Case Report From Saudi Arabia.Cureus · 2022Article
- [The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2018Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We analyzed the SLC4A1 gene in three Mexican patients with Hereditary Spherocytosis (HS). The promoter and all 20 exons were investigated through heteroduplex analysis and DNA sequencing. No DNA changes were detected in one of the three patients. Two well-known polymorphisms, Memphis I and the Diego-a blood group, were detected in another one. In the third, the HS phenotype could be explained by the novel 1885_1888dupCCGG mutation found in heterozygosis. This frameshift mutation is predicted to result in a truncated and unstable protein lacking normal functions.
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