Compound heterozygous β+ β0 mutation of HBB gene leading to β-thalassemia major in a Gujarati family — A case study

Compound heterozygous β+ β0 mutation of HBB gene leading to β-thalassemia major in a Gujarati family — A case study

β-Thalassemia is a genetic disease characterized by reduced or non-functionality of β-globin gene expression, which is caused due to a number of variations and indels (insertions and deletions). In this case study, we have reported a rare occurrence of compound heterozygosity of two different varian...

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Bibliographic Details
Main Authors: Spandan Chaudhary, Dipali Dhawan, Prashanth G. Bagali, Pooja S.Chaudhary, Abhinav Chaudhary, Sanjay Singh, Srinivas Vudathala
Format: Article
Language:English
Published: Elsevier 2016-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
β-Thalassemia
Compound heterozygous
β+/β0 mutation
Amniotic fluid
Nucleotide sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916300271

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http://www.sciencedirect.com/science/article/pii/S2214426916300271

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