The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population

Author:

Yasmeen HumairaORCID,Toma Sarmad,Killeen Natalie,Hasnain Shahida,Foroni Letizia

Funder

Higher Education Commission (HEC) of Pakistan

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference36 articles.

1. Relation of Xmn-1 polymorphism & five common Indian mutations of thalassaemia with phenotypic presentation in β-thalassaemia;Aditiya;J.K. Sci.,2006

2. Codon 4 (ACT Y ACA), codon 5 (CCT Y TCT) and codon 6 (GAG Y TAG) mutations in cis position. A form of thalassemia trait;Agarwal;Am. J. Hematol.,1997

3. Molecular genetics of beta thalassemia in Pakistan: a basis for prenatal diagnosis;Ahmed;Brit. J. Hematol.,1996

4. Screening extended families for genetic hemoglobin disorders in Pakistan;Ahmed;N. Engl. J. Med.,2002

5. A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population;Akhavan-Niaki;Blood Cells Mol. Dis.,2011

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