Hereditary spherocytosis due to a novel variant, p.Q1034X, in the beta subunit of the spectrin gene: A case report-Reference-Cited by-同舟云学术

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Hereditary spherocytosis due to a novel variant, p.Q1034X, in the beta subunit of the spectrin gene: A case report

Published:2024-09 Issue:3 Volume:9 Page:155-160
ISSN:2468-1245
Container-title:Pediatric Hematology Oncology Journal
language:en
Short-container-title:Pediatric Hematology Oncology Journal

Author:

Kugler Emmalee M.^ORCID,Patel Akash,Afridi Faraz,Scarano Maria I.,Ahmed Rafat

Publisher

Elsevier BV

Reference26 articles.

1. The complexity of genotype-phenotype correlations in hereditary spherocytosis: a cohort of 95 patients;van Vuren;HemaSphere,2019

2. A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of beta-spectrin;Li;Ann Hematol,2022

3. Mapping of glycolytic enzyme-binding sites on human erythrocyte band 3;Chu;Biochem J,2006

4. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis;Eber;Nat Genet,1996

5. An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216);Tse;Blood,1991

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