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Toplam kayıt 6, listelenen: 1-6
Induction of fetal hemoglobin by modulation of epigenetic and genetic factors in beta thalassemia major patients
(Nature Publishing Group, 2018)
[No Abstract Available]
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 ...
A Novel Mutation in the Promoter Region of the -Globin Gene: HBB: c.-127G > C
(Taylor & Francis Ltd, 2016)
Novel -globin gene mutations are still occasionally being reported, especially when evaluating milder phenotypes. We report here a novel putative mutation in the promoter region of the -globin gene and assess its clinical ...
First Observation of Hemoglobin Kansas [beta 102(G4)Asn -> Thr, AAC > ACC] in the Turkish Population
(Galenos Yayincilik, 2015)
[No Abstract Available]
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 ...
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 ...