A novel splice acceptor site mutation of the alpha 2-globin gene causing alpha-thalassemia

Authors
Noguera, NI Gonzalez, FA Davoli, RA Milani, AC Villegas, A
Citation
Ni. Noguera et al., A novel splice acceptor site mutation of the alpha 2-globin gene causing alpha-thalassemia, HEMOGLOBIN, 25(3), 2001, pp. 311-315
Citations number
10
Categorie Soggetti
Biochemistry & Biophysics
Journal title
HEMOGLOBIN
ISSN journal
03630269 → ACNP
Volume
25
Issue
3
Year of publication
2001
Pages
311 - 315
Database
ISI
SICI code
0363-0269(2001)25:3<311:ANSASM>2.0.ZU;2-E
Abstract
A novel nondeletional alpha -thalassemia mutation that affects RNA processi ng, changing the alpha2 IVS-II-142 splice acceptor consensus sequence from AG to AA, has been detected in an Argentinian patient with Hb H disease and her daughter.