ß-Thalassemia intermedia and ivs-1 NT6 homozygosis in Brazil
Braz. j. med. biol. res
;
24(2): 157-61, 1991. tab
Article
in English
| LILACS
| ID: lil-99450
ABSTRACT
The molecular abnormality of a patient with thalassemia intermedia was identified by DNA amplification (PCR) combined with the of synthetic oligonucleotide probes. The patient is a homozygote for the T===>C substitution at position 6 of the first intervening sequence (IVS1-6) of the ß globin gene. On the basis of this finding, the family, which had been previously reported by us to be a carrier of an unusually mild ß-thalassemia gene, was actually the first example reported of the clinical and biochemical features of ß-thalassemia-Portuguese type
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Index:
LILACS (Americas)
Main subject:
Polymerase Chain Reaction
/
Beta-Thalassemia
/
Homozygote
/
Mutation
Type of study:
Prognostic study
Limits:
Adult
/
Humans
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
1991
Type:
Article
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