A novel SUPT5H variant associated with a beta‐thalassaemia trait
Author:
Affiliation:
1. Department of genetics APHM Marseille France
2. Aix Marseille Univ MMG U 1251 Marseille France
3. Department of genetics Hôpital Saint Joseph Marseille France
Publisher
Wiley
Subject
Hematology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.17985
Reference5 articles.
1. Molecular basis of β thalassemia and potential therapeutic targets
2. A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H
3. Structure and Function of the Human Transcription Elongation Factor DSIF
4. KLF1 gene mutations cause borderline HbA2
5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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1. Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia;International Journal of Molecular Sciences;2024-08-16
2. Beta-thalassemia trait associated with a heterozygous loss-of-function variant of SUPT5H in a Southern Chinese family;QJM: An International Journal of Medicine;2024-06-06
3. SUPT5H mutations associated with elevation of Hb A2 level: Identification of two novel variants and literature review;Gene;2024-05
4. RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation;Developmental Cell;2023-10
5. β-Thalassemia Trait Caused by SUPT5H Defects: Another Case Report;Hemoglobin;2023-07-04
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