A Universal Approach to Correct Various HBB Gene Mutations in Human Stem Cells for Gene Therapy of Beta‐Thalassemia and Sickle Cell Disease
Sign Up to like & getrecommendations! Published in 2018 at "Stem Cells Translational Medicine"
DOI: 10.1002/sctm.17-0066
Abstract: Beta‐thalassemia is one of the most common recessive genetic diseases, caused by mutations in the HBB gene. Over 200 different types of mutations in the HBB gene containing three exons have been identified in patients… read more here.
Keywords: hbb gene; medicine; gene; stem cells ... See more keywords
Computational and drug target analysis of functional single nucleotide polymorphisms associated with Haemoglobin Subunit Beta (HBB) gene
Sign Up to like & getrecommendations! Published in 2020 at "Computers in biology and medicine"
DOI: 10.1016/j.compbiomed.2020.104018
Abstract: There is overwhelming evidence implicating Haemoglobin Subunit Beta (HBB) protein in the onset of beta thalassaemia. In this study for the first time, we used a combined SNP informatics and computer algorithms such as Neural… read more here.
Keywords: hbb; subunit beta; beta; haemoglobin subunit ... See more keywords
De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease
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DOI: 10.1101/gr.276103.121
Abstract: Although it is known that the mutation rate varies across the genome, previous estimates were based on averaging across various numbers of positions. Here, we describe a method to measure the origination rates of target… read more here.
Keywords: region; novo mutation; mutation; hbb gene ... See more keywords
Significance of variant annotation for molecular diagnosis of thalassaemia
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DOI: 10.1136/jclinpath-2020-207045
Abstract: Beta thalassaemia is one of the most common heritable haematological disorders worldwide. Although beta thalassaemia has an autosomal recessive mode of inheritance, the clinical presentations can be classified according to different categories of severity aligning… read more here.
Keywords: hbb gene; gene; thalassaemia; beta globin ... See more keywords