|
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 |
GeneticVariation
|
group |
CLINVAR |
Two new haemoglobin variants involving proline substitutions.
|
5782115 |
1969 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Oxygen affinity in hemoglobin Köln disease.
|
5059650 |
1972 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Polycythemia produced by hemoglobin Osler (beta-145 (HC2) Tyr yields Asp).
|
1117598 |
1975 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Hemoglobin Osler: report of a new family with exercise studies before and after phlebotomy.
|
7158624 |
1982 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Percentages of abnormal hemoglobins in adults with a heterozygosity for an alpha-chain and/or a beta-chain variant.
|
6859036 |
1983 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In this report we summarize our experience with prenatal diagnosis in 95 pregnancies in which the fetus was at risk for a hemoglobinopathy; the diagnosis was performed with use of DNA polymorphisms located so near the beta-globin gene that they are inherited along with that gene.
|
6300677 |
1983 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Abnormal processing of beta Knossos RNA.
|
6733281 |
1984 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Molecular characterization of seven beta-thalassemia mutations in Asian Indians.
|
6714226 |
1984 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.
|
6086605 |
1984 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Because of the general nature of these polymorphisms, which are related to the beta-globin gene and its variants only because of their proximity on chromosome 11, they are potentially useful in the prenatal diagnosis of any beta-chain hemoglobinopathy.
|
2998637 |
1985 |
|
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 |
CausalMutation
|
group |
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 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron.
|
3780671 |
1986 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Hemoglobin Knossos: a clinical, laboratory, and epidemiological study.
|
3942130 |
1986 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
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 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Fine structure genetic analysis of a beta-globin promoter.
|
3457470 |
1986 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The discovery that mutant beta-globin genes arise on different chromosomal backgrounds has allowed studies of the origin and spread of some of the common haemoglobinopathies.
|
3120465 |
1987 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.
|
3403716 |
1988 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
A novel beta-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNA.
|
2901867 |
1988 |
|
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 |
Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element.
|
2018842 |
1991 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
A new beta-thalassemia mutation (initiation codon ATG----GTG) found in the Japanese population.
|
1686262 |
1991 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family.
|
1850955 |
1991 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Detection of beta-thalassemia mutations by ASO hybridization of PCR amplified DNA with digoxigenin ddUTP labeled oligonucleotides.
|
1814858 |
1991 |