Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: A New α2 Chain Variant Observed in a Morrocan Family-Reference-Cited by-同舟云学术

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Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: A New α2 Chain Variant Observed in a Morrocan Family

Published:2011-03-21 Issue:2 Volume:35 Page:97-102
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Versteegh Florens G.A.,Arkesteijn Sandra G.J.,Bakker-Verweij Margreet,Haanappel Karola,Delft Peter van,Phylipsen Marion,Kaufmann Judith O.,Kok Peter J.M.J.,Lansbergen Gideon W.A.,Giordano Piero C.,Harteveld Cornelis L.

Publisher

Informa UK Limited

Subject

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

Link

http://www.tandfonline.com/doi/pdf/10.3109/03630269.2011.557459

Reference13 articles.

1. Hb St. Jozef, A Val→Leu N-Terminal Mutation Leading to Retention of the Methionine, and Partial Acetylation Found in the Globin Genein Ciswith a −α3.7Thalassemia Deletion

2. Hb Bleuland [α108(G15)Thr→Asn, ACC→AAC (α2)]: A New Abnormal Hemoglobin Associated with a Mild α-Thalassemia Phenotype

3. Hb GROENE HART: A NEW Pro→Ser AMINO ACID SUBSTITUTION AT POSITION 119 OF THEα1-GLOBIN CHAIN IS ASSOCIATED WITH A MILDα-THALASSEMIA PHENOTYPE

4. Hb Gouda [α72(EF1)HIS→GLN], a new Silent α Chain Variant

5. Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations

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