An α‐Thalassemia Phenotype in a Dutch Hindustani, Caused by a New Point Mutation that Creates an Alternative Splice Donor Site in the First Exon of the α2‐Globin Gene-Reference-Cited by-同舟云学术

An α‐Thalassemia Phenotype in a Dutch Hindustani, Caused by a New Point Mutation that Creates an Alternative Splice Donor Site in the First Exon of the α2‐Globin Gene

Published:2004-01 Issue:3 Volume:28 Page:255-259
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Harteveld Cornelis L.,Wijermans Pierre W.,van Delft Peter,Rasp Ellen,Haak Hans L.,Giordano Piero C.

Publisher

Informa UK Limited

Subject

Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology

Link

http://www.tandfonline.com/doi/pdf/10.1081/HEM-120040257

Reference13 articles.

1. 2 α-Thalassaemia

2. An IVS1-116 (A→G) acceptor splice site mutation in the α2 globin gene causing α+ thalassaemia in two Dutch families

3. An IVS-I-117 (G→A) acceptor splice site mutation in the α 1-globin gene is a nondeletional α-thalassaemia-2 determinant in an Indian population

4. Mutation in an intervening sequence splice junction in man.

5. α-Thalassaemia as a result of a novel splice donor site mutation of the α1 -globin gene

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