Compound heterozygous β(+) β(0) 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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Detalles Bibliográficos
Autores principales: Chaudhary, Spandan, Dhawan, Dipali, Bagali, Prashanth G., S.Chaudhary, Pooja, Chaudhary, Abhinav, Singh, Sanjay, Vudathala, Srinivas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834677/
https://www.ncbi.nlm.nih.gov/pubmed/27134826
http://dx.doi.org/10.1016/j.ymgmr.2016.04.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834677/
https://www.ncbi.nlm.nih.gov/pubmed/27134826
http://dx.doi.org/10.1016/j.ymgmr.2016.04.002

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