Nonsense ß-thalassemia mutation at codon 37 (TGG>TGA), detected for the first time in three Turkish cases.
Hemoglobin
; 36(3): 283-8, 2012.
Article
em En
| MEDLINE
| ID: mdl-22385009
ABSTRACT
Thalassemias are genetically heterogeneous group of disorders with reduced or absent production of globin. ß-Thalassemia major can be caused by homozygosity or compound heterozygosity for ß-globin gene mutation. Here we report, for the first time in Turkey, three cases who carry the nonsense ß-thalassemia (ß-thal) mutation at codon 37 (TGG>TGA; TrpâStop) causing premature stop codon.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Códon
/
Talassemia beta
/
Códon sem Sentido
/
Globinas beta
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Hemoglobin
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Turquia