Listar por tema "INHERITED DISORDERS"
Mostrando ítems 1-4 de 4
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The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G > T) in the HBG2 gene promoter
(2009)Nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH), a rare hereditary condition resulting in elevated levels of fetal hemoglobin (Hb F) in adults, is associated with promoter mutations in the human fetal ... -
Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1
(2007)We report a novel set of genetic markers in the DNasel hypersensitive sites comprising the human P-globin locus chromatin hub (CH), namely HS-111 and 3'HS1. The HS-111 (-21 G>A) and 3'HS1 (+179 C>T) transitions form CH ... -
Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country
(2007)We have undertaken a large population screening study to identify the molecular basis of hemoglobinopathies in the central Greece region. A total of 845 unrelated beta-thalassemia patients and alpha-, beta-, and delta ...