DNA sequence variation in a negative control region 5'to the beta-globin gene correlates with the phenotypic expression of the beta s mutation
J Elion, PE Berg, C Lapoumeroulie, G Trabuchet… - 1992 - ashpublications.org
The clinical diversity of sickle cell anemia is strongly related to the degree of intracellular
hemoglobin S (Hb S) polymerization, which in turn is dependent on the intracellular
concentration of Hb S. We have recently defined a region of DNA approximately 500 bp 5′
to the human beta-globin gene that acts as a silencer for the transcription of this gene and
have shown that a polymorphism in this sequence is associated with a thalassemic
phenotype of the beta-globin gene. In this work we have examined the correlation of DNA …
hemoglobin S (Hb S) polymerization, which in turn is dependent on the intracellular
concentration of Hb S. We have recently defined a region of DNA approximately 500 bp 5′
to the human beta-globin gene that acts as a silencer for the transcription of this gene and
have shown that a polymorphism in this sequence is associated with a thalassemic
phenotype of the beta-globin gene. In this work we have examined the correlation of DNA …
[PDF][PDF] DNA sequence variation in a negative control region 5'to the beta
D Labie, J Elion, PE Berg, C Lapoumeroulie… - 2011 - researchgate.net
The clinical diversity of sickle cell anemia is strongly related to the degree of intracellular
hemoglobin S (Hb S) polymerization, which in turn is dependent on the intracellular
concentration of Hb S. We have recently defined a region of DNA approximately 500 bp 5 'to
the human p-globin gene that acts as a silencer for the transcription of this gene and have
shown that a polymbrphism in this sequence is associated with a thalassemic phenotype of
the B-globin gene. In this work we have examined the correlation of DNA sequence …
hemoglobin S (Hb S) polymerization, which in turn is dependent on the intracellular
concentration of Hb S. We have recently defined a region of DNA approximately 500 bp 5 'to
the human p-globin gene that acts as a silencer for the transcription of this gene and have
shown that a polymbrphism in this sequence is associated with a thalassemic phenotype of
the B-globin gene. In this work we have examined the correlation of DNA sequence …
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