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Toplam kayıt 4, listelenen: 1-4
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
(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 ...
Investigation of alpha globin gene mutations by complementary methods in Antalya
(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 ...
Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study
(Lippincott Williams & Wilkins, 2022)
Background: We have aimed at exposing left ventricular diastolic functions and the presence of known genetic mutations for familial erythrocytosis, in patients who exhibit idiopathic erythrocytosis. Methods: Sixty-four ...
FMR1 Gene Mutation Analysis and CGG Repeat Number Distribution from a Single Center
(Gazi Univ, Fac Med, 2022)
Background: Mutation occurring in fragile X mental retardation 1 (FMR1) gene is acknowledged as the most common cause for X chromosome linked intellectual disability/mental retardation (XLID/XLMR). This gene harbors unstable ...