MUTATION Codons 56/57/58/59/60 (GGC·AAC·CCT·AAG·GTG); duplication of 14 bp
 
AMINO ACID REPLACEMENT Unknown
TYPE OF BETA-THAL beta°
MECHANISM Frameshift
OTHER INFORMATION No other information available
       
REFERENCES
1. Ghaffari, G., Lanvon, W.G., Haghshenas, M., and Connor, J.M.: Abstract 49, 6th International Confer.ence on Thalassaemia and the Haemoglobinopathies, Malta, April 1997.


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.