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Nonsense Beta-Thalassemia Mutation At Codon 37 (Tgg > Tga), Detected For The First Time In Three Turkish Cases
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| dc.contributor.author | Bozdoğan, Sevcan Tuğ | |
| dc.contributor.author | Ünsal, Çağatay | |
| dc.contributor.author | Erkman, Hakan | |
| dc.contributor.author | Genç, Ahmet | |
| dc.contributor.author | Yüreğir, Özge Özalp | |
| dc.contributor.author | Müslümanoğlu, Muhammed Hamza | |
| dc.contributor.author | Aslan, Hüseyin | |
| dc.date.accessioned | 2022-06-06T10:51:31Z | |
| dc.date.available | 2022-06-06T10:51:31Z | |
| dc.date.issued | 2012 | |
| dc.identifier.issn | 0363-0269 | |
| dc.identifier.uri | http://dspace.adiyaman.edu.tr:8080/xmlui/handle/20.500.12414/3081 | |
| dc.description.abstract | Thalassemias are genetically heterogeneous group of disorders with reduced or absent production of globin. beta-Thalassemia major can be caused by homozygosity or compound heterozygosity for beta-globin gene mutation. Here we report, for the first time in Turkey, three cases who carry the nonsense beta-thalassemia (beta-thal) mutation at codon 37 (TGG> TGA; Trp -> Stop) causing premature stop codon. | tr |
| dc.language.iso | en | tr |
| dc.publisher | Taylor & Francis Ltd | tr |
| dc.subject | Beta-Thalassemia (beta-thal) | tr |
| dc.subject | Codon 37 | tr |
| dc.subject | Nonsense mutation | tr |
| dc.subject | Genetic counseling | tr |
| dc.title | Nonsense Beta-Thalassemia Mutation At Codon 37 (Tgg > Tga), Detected For The First Time In Three Turkish Cases | tr |
| dc.type | Article | tr |
| dc.contributor.authorID | 0000-0002-9826-2396 | tr |
| dc.contributor.authorID | 0000-0002-7343-3064 | tr |
| dc.contributor.department | Numune Educ & Res Hosp, Dept Med Genet. | tr |
| dc.contributor.department | Seyhan Hereditary Blood Disorders Ctr, Dept Hematol | tr |
| dc.contributor.department | Adiyaman Univ, Vocat Sch Hlth Serv, | tr |
| dc.contributor.department | Eskisehir Osmangazi Univ, Dept Med Genet, Fac Med | tr |
| dc.identifier.endpage | 288 | tr |
| dc.identifier.issue | 3 | tr |
| dc.identifier.startpage | 283 | tr |
| dc.identifier.volume | 36 | tr |
| dc.source.title | Hemoglobin | tr |
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2012 [220]