ß-Thalassemia intermedia and ivs-1 NT6 homozygosis in Brazil
Braz. j. med. biol. res
;
24(2): 157-61, 1991. tab
Artigo
em Inglês
| 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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Índice:
LILACS (Américas)
Assunto principal:
Reação em Cadeia da Polimerase
/
Talassemia beta
/
Homozigoto
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Humanos
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
1991
Tipo de documento:
Artigo
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