Molecular basis for dominantly inherited inclusion body. beta. -thalassemia
Journal Article
·
· Proceedings of the National Academy of Sciences of the United States of America; (United States)
- John Radcliffe Hospital, Oxford (England)
- Royal Victoria Infirmary, Newcastle-upon-Tyne (England)
- Saint James's Hospital, Dublin (Ireland)
- Leicester Royal Infirmary (England)
Analysis of the molecular basis of dominantly inherited {beta}-thalassemia in four families has revealed different mutations involving exon 3 of the {beta}-globin gene. It is suggested that the phenotypic difference between this condition and the more common recessive forms of {beta}-thalassemia lies mainly in the length and stability of the abnormal translation products that are synthesized and, in particular, whether they are capable of binding heme and producing aggregations that are relatively resistant to proteolytic degradation.
- OSTI ID:
- 5462723
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 87:10; ISSN 0027-8424
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
59 BASIC BIOLOGICAL SCIENCES
GENES
DNA SEQUENCING
HEME
DNA-CLONING
THALASSEMIA
MOLECULAR BIOLOGY
ELECTROPHORESIS
HEREDITARY DISEASES
HUMAN POPULATIONS
PHENOTYPE
PHOSPHORUS 32
SULFUR 35
ANEMIAS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
CARBOXYLIC ACIDS
CLONING
DAYS LIVING RADIOISOTOPES
DISEASES
DNA HYBRIDIZATION
EVEN-ODD NUCLEI
HEMIC DISEASES
HETEROCYCLIC ACIDS
HETEROCYCLIC COMPOUNDS
HYBRIDIZATION
ISOTOPES
LIGHT NUCLEI
NUCLEI
ODD-ODD NUCLEI
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
PHOSPHORUS ISOTOPES
PIGMENTS
POPULATIONS
PORPHYRINS
RADIOISOTOPES
STRUCTURAL CHEMICAL ANALYSIS
SULFUR ISOTOPES
SYMPTOMS
550401* - Genetics- Tracer Techniques
GENES
DNA SEQUENCING
HEME
DNA-CLONING
THALASSEMIA
MOLECULAR BIOLOGY
ELECTROPHORESIS
HEREDITARY DISEASES
HUMAN POPULATIONS
PHENOTYPE
PHOSPHORUS 32
SULFUR 35
ANEMIAS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
CARBOXYLIC ACIDS
CLONING
DAYS LIVING RADIOISOTOPES
DISEASES
DNA HYBRIDIZATION
EVEN-ODD NUCLEI
HEMIC DISEASES
HETEROCYCLIC ACIDS
HETEROCYCLIC COMPOUNDS
HYBRIDIZATION
ISOTOPES
LIGHT NUCLEI
NUCLEI
ODD-ODD NUCLEI
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
PHOSPHORUS ISOTOPES
PIGMENTS
POPULATIONS
PORPHYRINS
RADIOISOTOPES
STRUCTURAL CHEMICAL ANALYSIS
SULFUR ISOTOPES
SYMPTOMS
550401* - Genetics- Tracer Techniques