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The first use of EaeI restriction enzyme in DNA diagnosis of Hb Q-India.

Abstract:

INTRODUCTION: The α-chain variant Hb Q-India (c.193G>C) is caused by a point mutation GAC→CAC at codon 64 of the α1 globin gene and is clinically silent. Point mutations can be diagnosed easily by many simple polymerase chain reaction (PCR) techniques including PCR-restriction digest, but for Hb Q-India the restriction digest has never been described. In this work we aimed to develop a restriction enzyme digestion assay for DNA diagnosis of Hb Q-India, in order to increase the panel of re...

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Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MSD, Oncology
Role:
Author
Journal:
International journal of laboratory hematology
Volume:
33
Issue:
5
Pages:
492-497
Publication date:
2011-10-05
DOI:
EISSN:
1751-553X
ISSN:
1751-5521
URN:
uuid:d86239f8-e2f8-4bc7-ac09-6d4f1cf6df57
Source identifiers:
163905
Local pid:
pubs:163905

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