|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Cooley's anemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Cooley's anemia
|
0.700 |
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 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Beta-thalassemia major resulting from a compound heterozygosity for the beta-globin gene mutation: further evidence for multiple origin and migration of the thalassemia gene.
|
1351038 |
1992 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene.
|
1856830 |
1991 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
β-thalassemia major is a hereditary recessive blood disease with deficiency in the hemoglobin beta chain.
|
27132015 |
2016 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Beta thalassemia major (BT) is an inherited blood disorder caused by reduced or absent synthesis of the hemoglobin beta chains, associated with profound anemia, jaundice, splenomegaly, expanded bone marrow volume, siderosis and cardiomegaly.
|
29068574 |
2017 |
|
Cooley's anemia
|
0.700 |
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 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Beta-thalassemia major (TM) is caused by any of approximately 150 mutations within the beta-globin gene.
|
7579421 |
1995 |
|
Cooley's anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
beta globin gene fragments from a patient with homozygous beta+-thalassemia have been cloned and subjected to restriction endonuclease, nucleotide sequence, and in vitro trancription analyses.
|
6264477 |
1981 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A 13-bp deletion in the 3' untranslated region of the β-globin gene causes β-thalassemia major in compound heterozygosity with IVSII-1 mutation.
|
21757944 |
2011 |
|
Cooley's anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
A beta globin gene from a patient with homozygous beta+ thalassemia has been cloned and completely sequenced.
|
6280138 |
1982 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A new frameshift mutation due to an insertion of G between codon 14/15 of the beta-globin gene was found in two unrelated Chinese patients with Cooley's anemia.The first patient (W.S.) was homozygous for haplotype 5 (Chinese) and carried a codon 41/42 (four base pair deletion) mutant, while the second patient (C.K.) was homozygous for haplotype 2 (Chinese), and also had a codon 17 (A----T) nonsense mutation.
|
2901867 |
1988 |
|
Cooley's anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer.
|
12480689 |
2003 |
|
Cooley's anemia
|
0.700 |
Biomarker
|
disease |
CTD_human |
A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.
|
6270663 |
1981 |
|
Cooley's anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Beta (β) thalassemia major is a genetic blood disorder with a deficiency in the hemoglobin beta chain, requiring blood transfusion therapy.
|
30091793 |
2019 |
|
Cooley's anemia
|
0.700 |
Biomarker
|
disease |
CTD_human |
beta 0 thalassemia, a nonsense mutation in man.
|
88735 |
1979 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Certain beta globin gene mutations produce a thalassemia major phenotype in the heterozygous state.
|
19852066 |
2010 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Chorionic villus sampling or amniocentesis was done in 35 pregnancies to obtain fetal cells for DNA linkage study, for which Southern blotting and DNA hybridization were used to detect seven restriction fragment length polymorphisms (RFLPs) within the beta-globin gene cluster: epsilon-HincII, G gamma-HindIII, A gamma-HindIII, phi beta-HincII, 3' phi beta-HincII, beta-AvaII, and 3' beta-BamHI. beta-Thalassaemia major was diagnosed in seven and excluded in 22 pregnancies.
|
1973294 |
1990 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major.
|
19486366 |
2010 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Eleven restriction site polymorphisms in the beta-globin gene cluster were determined in 48 Chinese with homozygous beta-thalassemia and their parents.
|
3011644 |
1986 |
|
Cooley's anemia
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hemoglobinopathies: clinical manifestations, diagnosis, and treatment.
|
21886666 |
2011 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study we have carried out haplotype analysis on the beta-globin gene cluster and characterized the beta-thalassemia mutation by oligonucleotide hybridization in 14 patients with thalassemia major and 5 with sickle cell/beta-thalassemia originating from southern Portugal.
|
3338791 |
1988 |
|
Cooley's anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Isolation and characterization of cloned DNA: the delta and beta globin genes in homozygous beta + thalassemia.
|
6256028 |
1981 |
|
Cooley's anemia
|
0.700 |
Biomarker
|
disease |
CTD_human |
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.
|
6280057 |
1982 |