MUTATION IVS-I, 3' end; -17 bp
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM Frameshift resulting in the deletion of 17 nts; affects splicing
OCCURRENCE In a Kuwaiti
OTHER INFORMATION No other information has been provided
       
REFERENCES
1. Kazazian, H.H., Jr.: Hosp. Pract., 20:55, 1985.
2. Kazazian, H.H., Jr. and Boehm, C.D.: Blood, 72:1107, 1988.


This material is from the book A Syllabus of Thalassemia Mutations (1997) by Titus H.J. Huisman, Marianne F.H. Carver, and Erol Baysal, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1997 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without permission in writing from the Author.