التفاصيل البيبلوغرافية
| العنوان: |
Molecular Diagnostics of ß-Thalassemia |
| المؤلفون: |
Plaseska-Karanfilska Dijana, Atanasovska B, Bozhinovski G, Chakalova L, Kocheva S, Karanfilski O |
| المصدر: |
Balkan Journal of Medical Genetics, Vol 15, Iss Supplement, Pp 61-65 (2012) |
| بيانات النشر: |
Sciendo, 2012. |
| سنة النشر: |
2012 |
| المجموعة: |
LCC:Genetics |
| مصطلحات موضوعية: |
hb lepore, hemoglobinopathy, molecular diagnostics, thalassemia., Genetics, QH426-470 |
| الوصف: |
A high-quality hemoglobinopathy diagnosis is based on the results of a number of tests including assays for molecular identification of causative mutations. We describe the current diagnostic strategy for the identification of b-thalassemias and hemoglobin (Hb) variants at the International Reference Laboratory for Haemoglobinopathies, Research Centre for Genetic Engineering and Biotechnology (RCGEB) “Georgi D. Efremov,” Skopje, Republic of Macedonia. Our overall approach and most of the methods we use for detection of mutations are designed for the specific target population. We discuss new technical improvements that have allowed us to substantially reduce the average time necessary for reaching a conclusive diagnosis. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
1311-0160 |
| Relation: |
https://doaj.org/toc/1311-0160 |
| DOI: |
10.2478/v10034-012-0021-z |
| URL الوصول: |
https://doaj.org/article/1aa4a8252d9245bd9c8ee20f0d57db70 |
| رقم الانضمام: |
edsdoj.1aa4a8252d9245bd9c8ee20f0d57db70 |
| قاعدة البيانات: |
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