| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
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| D004252 |
DNA Mutational Analysis |
Biochemical identification of mutational changes in a nucleotide sequence. |
Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA |
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| D005260 |
Female |
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Females |
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| D006453 |
Hemoglobinopathies |
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. |
Hemoglobinopathy |
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| D006454 |
Hemoglobins |
The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. |
Eryhem,Ferrous Hemoglobin,Hemoglobin,Hemoglobin, Ferrous |
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| D006455 |
Hemoglobins, Abnormal |
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. |
Abnormal Hemoglobins |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000328 |
Adult |
A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. |
Adults |
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| D000483 |
Alleles |
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. |
Allelomorphs,Allele,Allelomorph |
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| D012680 |
Sensitivity and Specificity |
Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed) |
Specificity,Sensitivity,Specificity and Sensitivity |
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