Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster.

Position-independent, high-level expression of the human β-globin gene in transgenic mice

1987 • 1,955 citations

[32] Oligonucleotide-directed mutagenesis of DNA fragments cloned into M13 vectors

1983 • 1,093 citations

The "beta-like-globin" gene domain in human erythroid cells.

1985 • 634 citations

A review of the molecular genetics of the human alpha-globin gene cluster

1989 • 443 citations

Evidence for a locus activation region: the formation of developmentally stable hypersensitive sites in globin-expressing hybrids

1987 • 440 citations

Recombination at the human α-globin gene cluster: Sequence features and topological constraints

1987 • 345 citations

A major positive regulatory region located far upstream of the human alpha-globin gene locus.

1990 • 337 citations

Differences in human α- and β-globin gene expression in mouse erythroleukemia cells: The role of intragenic sequences

1984 • 312 citations

A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

1990 • 288 citations

Regulated expression of human Aγ-, β-, and hybrid γβ-globin genes in transgenic mice: Manipulation of the developmental expression patterns

1986 • 275 citations

A single erythroid-specific DNase I super-hypersensitive site activates high levels of human beta-globin gene expression in transgenic mice.

1989 • 269 citations

β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

1983 • 266 citations

Hemoglobin: Molecular, genetic and clinical aspects

1987 • 248 citations

Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.

1989 • 240 citations

Molecular analysis of the human beta-globin locus activation region.

1989 • 218 citations

Homology and concerted evolution at the α1 and α2 loci of human α-globin

1981 • 207 citations

Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster.

1986 • 204 citations

Two 3' sequences direct adult erythroid-specific expression of human beta-globin genes in transgenic mice.

1987 • 202 citations

Human fetal to adult hemoglobin switching: changes in chromatin structure of the beta-globin gene locus.

1983 • 190 citations

Highly variable regions of DNA flank the human α globin genes

1981 • 169 citations

Molecular basis of length polymorphism in the human zeta-globin gene complex.

1983 • 156 citations

Human alpha-globin gene expression. The dominant role of the alpha 2-locus in mRNA and protein synthesis.

1986 • 142 citations

A 3' enhancer contributes to the stage-specific expression of the human beta-globin gene.

1987 • 128 citations

The duplicated human α-globin genes: Their relative expression as measured by RNA analysis

1981 • 123 citations

Human beta-globin gene expression in transgenic mice is enhanced by a distant DNase I hypersensitive site.

1989 • 122 citations

Regulated expression of the human β-globin gene family in murine erythroleukaemia cells

1983 • 112 citations

Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster

1990 • 112 citations

A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.

1985 • 106 citations

High-level, erythroid-specific expression of the human alpha-globin gene in transgenic mice and the production of human hemoglobin in murine erythrocytes.

1989 • 83 citations

DETECTION OF BREAKPOINTS IN SUBMICROSCOPIC CHROMOSOMAL TRANSLOCATION, ILLUSTRATING AN IMPORTANT MECHANISM FOR GENETIC DISEASE

1989 • 82 citations

An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.

1987 • 77 citations

α Thalassemia

1989 • 63 citations

alpha-Thalassemia caused by an unstable alpha-globin mutant.

1983 • 62 citations

Compensatory increase in alpha 1-globin gene expression in individuals heterozygous for the alpha-thalassemia-2 deletion.

1985 • 60 citations

A new hypervariable marker for the human alpha-globin gene cluster.

1988 • 57 citations

A long-range restriction map between the α-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus

1990 • 52 citations

Locus assignment of alpha-globin structural mutations by hybrid-selected translation.

1985 • 28 citations

Isolation and mapping of a polymorphic DNA sequence (PEKMDA2-I) on chromosome 16 (D16S83)

1988 • 26 citations

Heterogeneity of the ?-globin gene defects in German ?-thalassemia affected families

1985 • 5 citations