A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the ß-Globin Gene Leads to ß-Thalassemia.
Hemoglobin
; 41(1): 59-60, 2017 Jan.
Article
em En
| MEDLINE
| ID: mdl-28460555
ABSTRACT
We describe a new ß-thalassemic mutation in a Chinese subject. This allele develops by insertion of one nucleotide (+T) between codons 138 and 139 in the third exon of the ß-globin gene. The mutation causes a frameshift that leads to a termination codon at codon 139. In the heterozygote, this allele has the phenotype of classical ß-thalassemia (ß-thal) minor.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Códon
/
Mutação da Fase de Leitura
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Talassemia beta
/
Globinas beta
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Humans
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Male
Idioma:
En
Revista:
Hemoglobin
Ano de publicação:
2017
Tipo de documento:
Article