Hb Niigata [beta1(NA1)Val-->Leu] in a Romanian individual resulting from another nucleotide substitution than that found in the Japanese.
Hemoglobin
; 31(4): 477-82, 2007.
Article
em En
| MEDLINE
| ID: mdl-17994382
We present a new case of Hb Niigata that we named Hb Niigata(C), observed in a woman from Romania, with a mutation different from that described in Japanese (GTG-->CTG instead of GTG-->TTG). This single nucleotide substitution replaces the valine residue for leucine at codon 1 and causes retention of the N-terminal methionine leading to an elongated beta chain. This mutation was without any hematological consequences.
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Base de dados:
MEDLINE
Assunto principal:
Globinas
/
Hemoglobinas Anormais
/
Mutação Puntual
/
Talassemia beta
Limite:
Adult
/
Female
/
Humans
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article