A 13-bp Deletion in the 3′ Untranslated Region of the β-Globin Gene Causes β-Thalassemia Major in Compound Heterozygosity with IVSII-1 Mutation
Author:
Publisher
S. Karger AG
Subject
General Medicine
Reference7 articles.
1. The β-globin C→G mutation at 6 bp 3′ to the termination codon causes β-thalassaemia by decreasing the mRNA level
2. Terminal Exon Definition Occurs Cotranscriptionally and Promotes Termination of RNA Polymerase II
3. A Novel 13 BP Deletion in the 3′UTR of the β-Globin Gene Causes β-Thalassemia in a Turkish Patient
4. A simple salting out procedure for extracting DNA from human nucleated cells
5. A novel 355–357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients
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1. Targeted Next-Generation Sequencing Reveals a Large Novel β-Thalassemia Deletion that Removes the Entire HBB Gene;Hemoglobin;2022-09-03
2. Alpha‐globin gene triplication and its effect in beta‐thalassemia carrier, sickle cell trait, and healthy individual;eJHaem;2021-07-19
3. Compound heterozygosity of a silent beta‐thalassemia mutation at the 3′‐untranslated region ( HBB : c.*132 C>T) and beta‐zero thalassemia results in thalassemia intermedia;Pediatric Blood & Cancer;2020-01-13
4. Molecular Genetics of Thalassemia Syndromes;Colloquium Series on Genomic and Molecular Medicine;2016-08-12
5. β-Globin Genes: Mutation Hot-Spots in the Global Thalassemia Belt;Hemoglobin;2014-12-19
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