|
beta Thalassemia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
"""Silent"" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA."
|
6572978 |
1983 |
|
beta Thalassemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
"A C----T substitution at nt--101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with ""silent"" beta-thalassemia."
|
2713503 |
1989 |
|
beta Thalassemia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
"beta-Thalassemia in American Blacks: novel mutations in the ""TATA"" box and an acceptor splice site."
|
6583702 |
1984 |
|
beta Thalassemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
"beta-Thalassemia in American Blacks: novel mutations in the ""TATA"" box and an acceptor splice site."
|
6583702 |
1984 |
|
beta Thalassemia
|
0.800 |
Biomarker
|
disease |
CTD_human |
"The same ""TATA"" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation."
|
3021607 |
1986 |
|
beta Thalassemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
"The same ""TATA"" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation."
|
3021607 |
1986 |
|
beta Thalassemia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
β -thalassemia intermedia in Northern Iraq: a single center experience.
|
24719849 |
2014 |
|
beta Thalassemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
β -thalassemia intermedia in Northern Iraq: a single center experience.
|
24719849 |
2014 |
|
beta Thalassemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent.
|
22875618 |
2013 |
|
beta Thalassemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
β-Globin Mutations in Egyptian Patients With β-Thalassemia.
|
25617386 |
2015 |
|
beta Thalassemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
β-Thalassemia Mutations among Transfusion-Dependent Thalassemia Major Patients in Northern Iraq.
|
22110956 |
2010 |
|
beta Thalassemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
β-Thalassemia mutations and hemoglobinopathies in Adana, Turkey: results from a single center study.
|
22851993 |
2012 |
|
beta Thalassemia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
'Silent' beta-thalassaemia caused by a 'silent' beta-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia.
|
7104238 |
1982 |
|
beta Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
1) The -101 C-->T mutation of the promoter of the beta globin gene shows a normal hematological picture with the Hb A2 level often slightly raised and the alpha/beta globin synthesis ratio slightly greater than 1; 2) beta + thalassemia resulting from the IVS II 844 C-->G mutation has a phenotype that is even closer to normal; 3) -alpha 3.7 deletion type I usually has a totally silent phenotype; 4) the alpha Ncol mutation almost always gives rise to a sub-silent phenotype if it is located on gene alpha 2 and to a silent phenotype if it is found on gene alpha 1; 5) alpha + thalassemia due to the alpha 2 Hphl mutation displays a sub-silent phenotype in some cases and a silent one in others; 6) triplication of the alpha genes gives rise to a phenotype that is quite similar to that of the -101 C-->T mutation of the promoter of the beta globin gene, namely one that is very often silent.
|
9234571 |
1997 |
|
beta Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Beta-thalassemia is endemic to many regions in Southeast Asia and India, and <20 beta-globin gene mutations account for > or =90% of beta-thalassemia alleles in these places.
|
12560342 |
2003 |
|
beta Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Beta thalassemia is an autosomal recessive disorder characterized by reduced (beta(+)) or absent (beta(0)) beta-globin chain synthesis.
|
15638828 |
2005 |
|
beta Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
beta-Thalassemia is an inherited anemia in which synthesis of the hemoglobin beta-chain is decreased.
|
16755567 |
2006 |
|
beta Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Beta-thalassemia represents a great heterogeneity as over 200 mutations have been identified for the beta-globin gene responsible for this disease.
|
18339318 |
2008 |
|
beta Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
beta-thalassemia occurs from the imbalanced globin chain synthesis due to the absence or inadequate beta-globin chain production.
|
19608680 |
2009 |
|
beta Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Beta-thalassemia is a genetic disorder with mutations in the β-globin gene that reduce or abolish β-globin protein production.
|
21239833 |
2010 |
|
beta Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
β-thalassaemia is a hereditary anaemia resulting from the absence or reduction in β-globin chain production.
|
24020406 |
2013 |
|
beta Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
β- thalassaemia is a disorder of globin gene synthesis resulting in reduced or absent production of the β-globin chain in red blood cells.
|
25892530 |
2015 |
|
beta Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Beta thalassemias (βth) are due to mutations in the β-globin gene.
|
27235732 |
2016 |
|
beta Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.
|
2920213 |
1989 |
|
beta Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cooley anemia (CA), or β-thalassemia major, is the most severe form of the disease and occurs when an individual has mutations in both copies of the adult β-globin gene.
|
29296892 |
2017 |