A novel alpha-thalassemia nonsense mutation in HBA2: C.382 A > T globin gene

In this study, a new alpha globin gene mutation on the α2-globin gene is reported. This mutation resulted in a Lys > stop codon substitution at position 127 which was detected in four individuals (three males and one female). DNA sequencing revealed this mutation in unrelated persons in Khuzestan...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Archives of Iranian medicine 2014-07, Vol.17 (7), p.475
Hauptverfasser:	Hamid, Mohammad, Bokharaei Merci, Hanieh, Galehdari, Hamid, Saberi, Ali Hossein, Kaikhaei, Bijan, Mohammadi-Anaei, Marziye, Ahmadzadeh, Ahmad, Shariati, Gholamreza
Format:	Artikel
Sprache:	eng
Schlagworte:	alpha-Thalassemia - genetics alpha-Thalassemia - pathology Codon, Nonsense Female Hemoglobin A2 - genetics Humans Male
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!