|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In the present study, we investigated how these pathways are used in β-thalassemia, a common hemoglobinopathy in which β-globin gene mutations cause the accumulation and precipitation of cytotoxic α-globin subunits.
|
22427201 |
2012 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Reverse dot-blot detection of the African-American beta-thalassemia mutations.
|
7632967 |
1995 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations.
|
19460936 |
2009 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the HBB gene are responsible for several serious hemoglobinopathies, such as sickle cell anemia and β-thalassemia.
|
28379995 |
2017 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The PCR-SSCP technique might be a useful molecular technique to minimize the requirement of direct genomic sequencing to identify beta-globin gene mutations and could be applied in several developing countries where resources are limited but genetic hemoglobin disorders are highly prevalent.
|
16139831 |
2005 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Two new haemoglobin variants involving proline substitutions.
|
5782115 |
1969 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Overlap has been reported between the inherited PXE phenotype associated with ENPP1, ABCC6 or NT5E mutations and acquired PXE clinical manifestations associated with haemoglobinopathies induced by HBB mutations.
|
31646622 |
2019 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the β-globin gene (HBB) cause haemoglobinopathies where current treatments have serious limitations.
|
24590875 |
2014 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Automated fluorescence-based DNA sequence analysis provides a rapid and reliable method for identification of common, rare and unknown beta-globin gene mutations, which is essential for prevention and control of thalassemia and hemoglobinopathy in Thailand.
|
18498386 |
2009 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Detection of responsible mutations for beta thalassemia in the Kermanshah Province of Iran using PCR-based techniques.
|
19437135 |
2010 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Fine structure genetic analysis of a beta-globin promoter.
|
3457470 |
1986 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
DNA-polymorphic patterns linked to the beta-globin genes in German families affected with hemoglobinopathies and thalassemias: a comparison to other ethnic groups.
|
2998970 |
1985 |
|
Hemoglobinopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
A full understanding of the molecular mechanisms of epigenetic silencing of HbF expression should facilitate the development of more effective treatment of β-globin chain hemoglobinopathies.
|
24880147 |
2015 |
|
Hemoglobinopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
Structure analysis was performed on the key mutations that occur in the native protein coded by the HBB gene that causes hemoglobinopathies such as: HbC (E→K), HbD (E→Q), HbE (E→K) and HbS (E→V).
|
22028795 |
2011 |
|
Hemoglobinopathies
|
0.500 |
Biomarker
|
group |
CTD_human |
Hemoglobin Hiroshima (beta-143 histidine--aspartic acid): a newly identified fast moving beta chain variant associated with increased oxygen affinity and compensatory erythremia.
|
5773089 |
1969 |
|
Hemoglobinopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
This report describes the use of whole-blood spots on filter papers from newborn hemoglobinopathy screening for beta-globin gene cluster haplotyping by the polymerase chain reaction.
|
8980265 |
1997 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Abnormal processing of beta Knossos RNA.
|
6733281 |
1984 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).
|
7860732 |
1995 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Hemoglobinopathies in North Africa: a review.
|
20113284 |
2010 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Prenatal and newborn screening for hemoglobinopathies.
|
23590658 |
2013 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
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 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Characterisation and confirmation of rare beta-thalassaemia mutations in the Malay, Chinese and Indian ethnic groups in Malaysia.
|
17008283 |
2006 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Oxygen affinity in hemoglobin Köln disease.
|
5059650 |
1972 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
High prevalence of the beta-thalassaemia nonsense 37 mutation in Catalonians from the Ebro delta.
|
1520612 |
1992 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
A significant beta-thalassemia heterogeneity in the United Arab Emirates.
|
9140720 |
1997 |