| Literature DB >> 23510507 |
Chingiz D Asadov1, Eldar R Abdulalimov, Tahira A Mammadova, Surmaya N Qafarova, Yegana J Guliyeva, Abdullah Tuli, M Akif Cürük.
Abstract
β-Thalassemias are an inherited group of disorders of hemoglobin (Hb) and comprise the most common monogenic disorders in Azerbaijan. They are extremely heterogeneous at the molecular level. Here we report the first identification of a patient who is a compound heterozygote for two rare β-thalassemia (β-thal) mutations, IVS-I-130 (G>C) and codon 37 (TGG>TGA).Entities:
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Year: 2013 PMID： 23510507 DOI： 10.3109/03630269.2013.774283
Source DB: PubMed Journal: Hemoglobin ISSN： 0363-0269 Impact factor: 0.849