rs34704828
×
Entrez Id:
3043
Gene Symbol:
HBB
HBB
Hemoglobinopathies
T
0.700
CausalMutation
CLINVAR
Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene.
1536956
1992
rs34704828
×
Entrez Id:
3043
Gene Symbol:
HBB
HBB
Hemoglobinopathies
T
0.700
CausalMutation
CLINVAR
Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter.
9401495
1997
rs34704828
×
Entrez Id:
3043
Gene Symbol:
HBB
HBB
Hemoglobinopathies
T
0.700
CausalMutation
CLINVAR
A downstream element in the human beta-globin promoter: evidence of extended sequence-specific transcription factor IID contacts.
10840054
2000
rs34704828
×
Entrez Id:
3043
Gene Symbol:
HBB
HBB
Hemoglobinopathies
T
0.700
CausalMutation
CLINVAR
beta-Thalassaemia intermedia in a Turkish girl: homozygosity for G-->A substitution at +22 relative to the beta-globin cap site.
11722417
2001
rs34704828
×
Entrez Id:
3043
Gene Symbol:
HBB
HBB
Hemoglobinopathies
T
0.700
CausalMutation
CLINVAR
Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles.
11857746
2002
rs34704828
×
Entrez Id:
3043
Gene Symbol:
HBB
HBB
Hemoglobinopathies
T
0.700
CausalMutation
CLINVAR
Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing.
12368169
2002
rs34704828
×
Entrez Id:
3043
Gene Symbol:
HBB
HBB
Hemoglobinopathies
T
0.700
CausalMutation
CLINVAR
Clinical and molecular aspects of haemoglobinopathies in Tunisia.
14734204
2004
rs34704828
×
Entrez Id:
3043
Gene Symbol:
HBB
HBB
Hemoglobinopathies
T
0.700
CausalMutation
CLINVAR
Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.
15108284
2004
rs34704828
×
Entrez Id:
3043
Gene Symbol:
HBB
HBB
Hemoglobinopathies
T
0.700
CausalMutation
CLINVAR
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.
20704537
2010