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Journal article

Clinical phenotypes and molecular characterization of Hb H-Pakse disease.

Abstract:

BACKGROUND AND OBJECTIVES: Hemoglobin Constant Spring (Hb CS), caused by a termination codon mutation (TAA-->CAA) in the a2 gene, is the most common non-deletional type of a thalassemia in Southeast Asia. This mutation can most easily be detected by loss of an MseI-restriction site (T/TAA) spanning the termination codon. Recently, we sequenced the a globin genes from patients with a thalassemia in whom this MseI site was absent. This revealed, a previously described termination codon muta...

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Publication status:
Published

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Journal:
Haematologica
Volume:
87
Issue:
2
Pages:
117-125
Publication date:
2002-02-05
EISSN:
1592-8721
ISSN:
0390-6078
URN:
uuid:f25fab4e-9677-4cde-9ae5-12b9dd45cca8
Source identifiers:
124867
Local pid:
pubs:124867

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