First observation of hemoglobin G-waimanalo and hemoglobin fontainebleau cases in the Turkish population
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Investigation of alpha globin gene mutations by complementary methods in Antalya
Keser, İbrahim; Mercan, T.K.; Bilgen, Türker; Kupesiz, O.A.; Arikan, Y.; Canatan, D. (Yuzuncu Yil Universitesi Tip Fakultesi, 2021)Alpha (?) thalassemia is one of the hemoglobinopaties that is inherited by autosomal recessive mode. It is caused by mutations on alpha-1 and alpha-2 globin genes. Deletional type mutations of globin genes have commonly ... -
Gap-PCR Screening for Common Large Deletional Mutations of beta-Globin Gene Cluster Revealed a Higher Prevalence of the Turkish Inversion/Deletion (delta beta)(0) Mutation in Antalya
Bilgen, Türker; Clark, Özden Altıok; Öztürk, Zeynep; Yesilipek, M. Akif; Keser, İbrahim (Galenos Yayincilik, 2016)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 ... -
A database for screening and registering late onset Pompe disease in Turkey
Gokyigit, M.C.; Ekmekci, Hakan; Durmuş, H.; Karlı, N.; Köseoğlu, E.; Aysal, F.; Turgut, Nilda (Elsevier Ltd, 2018)The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a ...