In an individual homozygous for G gamma-delta beta-thalassemia, a physical alteration in gamma-globin gene organization was detected by restriction enzyme mapping. The data indicated that the absence of A gamma-globin chains resulted from extension of the DNA deletion from the delta beta-globin gene region into the gamma-globin gene region rather than a functional disturbance of gamma-gene expression.
S H Orkin, B P Alter, C Altay
Title and authors | Publication | Year |
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Genome-wide analysis of copy number variants in age-related macular degeneration
KJ Meyer, LK Davis, EI Schindler, JS Beck, DS Rudd, AJ Grundstad, TE Scheetz, TA Braun, JH Fingert, WL Alward, YH Kwon, JC Folk, SR Russell, TH Wassink, EM Stone, VC Sheffield |
Human Genetics | 2010 |