Atıf İçin Kopyala
Bilgen T., Altıok Clark Ö., Öztürk Z., Yeşilipek M. A., Keser İ.
Turkish journal of haematology : official journal of Turkish Society of Haematology, cilt.33, ss.107-11, 2016 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
33
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Basım Tarihi:
2016
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Doi Numarası:
10.4274/tjh.2014.0242
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Dergi Adı:
Turkish journal of haematology : official journal of Turkish Society of Haematology
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
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Sayfa Sayıları:
ss.107-11
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Anahtar Kelimeler:
Deletional mutations, Turkish inversion/deletion (delta beta)(0) mutation, Gap-PCR, beta-Globin gene cluster, DEPENDENT PROBE AMPLIFICATION, MOLECULAR CHARACTERIZATION, PRENATAL-DIAGNOSIS, FETAL-HEMOGLOBIN, THALASSEMIA, IDENTIFICATION, POPULATION, FAMILY, TURKEY
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Akdeniz Üniversitesi Adresli:
Evet
Özet
Objective: Although the calculated carrier frequency for point mutations of the beta-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the beta-globin gene. In this study, we aimed to screen common deletional mutations in the beta-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation(s) responsible for the disease phenotype.