A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC)
A rare case of thalassaemia-intermedia involving a non-deletion alpha thalassemia point mutation in the α1-globin gene CD59 (GGC → GAC) and a deletion α+ (-α3.7) thalassaemia in which use of high performance liquid chromatography (HPLC) C-gram Hb subtype profile and DNA molecular analysis helped est...
Saved in:
Main Authors: | , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Malaysian Medical Association
2009
|
Online Access: | http://psasir.upm.edu.my/id/eprint/12806/1/A%20rare%20case%20of%20alpha-thalassaemia%20intermedia%20in%20a%20Malay%20patient%20double%20heterozygous%20for%20%CE%B1%2B%20%E2%80%93thalassaemia%20and%20a%20mutation%20in%20%CE%B11%20globin%20gene%20CD59%20%28GGC%20%E2%86%92%20GAC%29.pdf http://psasir.upm.edu.my/id/eprint/12806/ http://www.e-mjm.org/2009/v64n4/index.html |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
id |
my.upm.eprints.12806 |
---|---|
record_format |
eprints |
spelling |
my.upm.eprints.128062016-11-30T03:07:22Z http://psasir.upm.edu.my/id/eprint/12806/ A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC) George, Elizabeth Tan, Mary Anne Jin Ai A. S., Nor Azian Ahmad, Rahimah Zakaria, Zubaidah A rare case of thalassaemia-intermedia involving a non-deletion alpha thalassemia point mutation in the α1-globin gene CD59 (GGC → GAC) and a deletion α+ (-α3.7) thalassaemia in which use of high performance liquid chromatography (HPLC) C-gram Hb subtype profile and DNA molecular analysis helped establish the diagnosis. Malaysian Medical Association 2009-12 Article PeerReviewed application/pdf en http://psasir.upm.edu.my/id/eprint/12806/1/A%20rare%20case%20of%20alpha-thalassaemia%20intermedia%20in%20a%20Malay%20patient%20double%20heterozygous%20for%20%CE%B1%2B%20%E2%80%93thalassaemia%20and%20a%20mutation%20in%20%CE%B11%20globin%20gene%20CD59%20%28GGC%20%E2%86%92%20GAC%29.pdf George, Elizabeth and Tan, Mary Anne Jin Ai and A. S., Nor Azian and Ahmad, Rahimah and Zakaria, Zubaidah (2009) A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC). Medical Journal of Malaysia, 64 (4). pp. 321-322. ISSN 0300-5283 http://www.e-mjm.org/2009/v64n4/index.html |
institution |
Universiti Putra Malaysia |
building |
UPM Library |
collection |
Institutional Repository |
continent |
Asia |
country |
Malaysia |
content_provider |
Universiti Putra Malaysia |
content_source |
UPM Institutional Repository |
url_provider |
http://psasir.upm.edu.my/ |
language |
English |
description |
A rare case of thalassaemia-intermedia involving a non-deletion alpha thalassemia point mutation in the α1-globin gene CD59 (GGC → GAC) and a deletion α+ (-α3.7) thalassaemia in which use of high performance liquid chromatography (HPLC) C-gram Hb subtype profile and DNA molecular analysis helped establish the diagnosis. |
format |
Article |
author |
George, Elizabeth Tan, Mary Anne Jin Ai A. S., Nor Azian Ahmad, Rahimah Zakaria, Zubaidah |
spellingShingle |
George, Elizabeth Tan, Mary Anne Jin Ai A. S., Nor Azian Ahmad, Rahimah Zakaria, Zubaidah A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC) |
author_facet |
George, Elizabeth Tan, Mary Anne Jin Ai A. S., Nor Azian Ahmad, Rahimah Zakaria, Zubaidah |
author_sort |
George, Elizabeth |
title |
A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC) |
title_short |
A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC) |
title_full |
A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC) |
title_fullStr |
A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC) |
title_full_unstemmed |
A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC) |
title_sort |
rare case of alpha-thalassaemia intermedia in a malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene cd59 (ggc → gac) |
publisher |
Malaysian Medical Association |
publishDate |
2009 |
url |
http://psasir.upm.edu.my/id/eprint/12806/1/A%20rare%20case%20of%20alpha-thalassaemia%20intermedia%20in%20a%20Malay%20patient%20double%20heterozygous%20for%20%CE%B1%2B%20%E2%80%93thalassaemia%20and%20a%20mutation%20in%20%CE%B11%20globin%20gene%20CD59%20%28GGC%20%E2%86%92%20GAC%29.pdf http://psasir.upm.edu.my/id/eprint/12806/ http://www.e-mjm.org/2009/v64n4/index.html |
_version_ |
1643825140237074432 |
score |
13.160551 |