×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Polycythemia produced by hemoglobin Osler (beta-145 (HC2) Tyr yields Asp).
1117598 1975
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Black beta-thalassemia homozygotes with specific sequence variations in the 5' hypersensitive site-2 of the locus control region have high levels of fetal hemoglobin.
1384315 1992
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
GeneticVariation
CLINVAR
The -87 (C----A) beta(+)-thalassemia mutation in a black family.
1428943 1992
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
High prevalence of the beta-thalassaemia nonsense 37 mutation in Catalonians from the Ebro delta.
1520612 1992
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene.
1536956 1992
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A new beta-thalassemia mutation (initiation codon ATG----GTG) found in the Japanese population.
1686262 1991
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Molecular heterogeneity of beta-thalassemia in mestizo Mexicans.
1769663 1991
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
GeneticVariation
CLINVAR
Detection of beta-thalassemia mutations by ASO hybridization of PCR amplified DNA with digoxigenin ddUTP labeled oligonucleotides.
1814858 1991
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family.
1850955 1991
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens.
1974422 1990
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.
1986379 1991
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation.
2014803 1991
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element.
2018842 1991
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A novel beta-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNA.
2901867 1988
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.
3006832 1986
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.
3403716 1988
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
GeneticVariation
CLINVAR
Fine structure genetic analysis of a beta-globin promoter.
3457470 1986
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron.
3780671 1986
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Hemoglobin Knossos: a clinical, laboratory, and epidemiological study.
3942130 1986
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta (+)-thalassemia intermedia associated with delta (0)-thalassemia.
3955238 1986
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Oxygen affinity in hemoglobin Köln disease.
5059650 1972
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
GeneticVariation
CLINVAR
Two new haemoglobin variants involving proline substitutions.
5782115 1969
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.
6086605 1984
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Molecular characterization of seven beta-thalassemia mutations in Asian Indians.
6714226 1984
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Abnormal processing of beta Knossos RNA.
6733281 1984