A NEW SILENT β CHAIN VARIANT: Hb HOUNSLOW [β 80(EF4)Asn→Tyr]
Préhu C1,2, Riou J2, Henthorn J3, Wajcman H1,2*
*Corresponding Author: Dr. Henri Wajcman, INSERM U841 eq 11, Hôpital Henri Mondor, 94010 Créteil, France; Tel.: +33(0)1-49-81-35-78; Fax: +31(0)148-99-33-45; E-mail: Henri.Wajcman@im3.inserm.fr
page: 29

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1. Kornblit B, Taaning P, Birgens H. β-Thalassemia due to a novel nonsense mutation at codon 37 (TGG→TAG) found in an Afghanistani family. Hemoglobin 2005; 29(3): 209-213.

2. Krugluger W, Hopmeier P. Identification of a compound β-thalassemia homozygosity [codon 10 (GCC→GCA) and codon 16 (–C)] in an Afghan family. Hemoglobin 2002; 26(3): 317-320.

3. Khan SN, Riazuddin S. Molecular characterization of β-thalassemia in Pakistan. Hemoglobin 1998; 22(4): 333-345.

4. Wajcman H, Préhu C, Bardakdjian-Michau J, Promé D, Riou J, Godart C, Mathis M, Hurtrel D, Galactéros,F. Abnormal hemoglobins: laboratory methods. Hemoglobin 2001, 25(6): 169-181.

5. Wajcman H, Riou J, Yapo AP. Globin chain analysis by reversed phase high performance liquid chromatography: recent developments. Hemoglobin 2002; 26(3): 271-284.

6. Hardison RC, Chui DHK, Giardine B, Riemer C, Patrinos GP, Anagnou N, Miller W, Wajcman H. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 2002;19(3):225-233 (http://globin.bx.psu.edu/hb var/menu.html).

7. Harteveld CC, van Helden WCH, Boxma GL, van Delft P, Bakker-Verweij M, Wajcman H, Zanella-Cleon I, Becchi M, Giordano PC. Hb Zoetermeer. A new mutation on the α2 gene inducing an AlaSer substitution at codon 21 is possibly associated with a mild thalassemic phenotype. Hemoglobin 2007; 31(3): (in press).

8. Marden MC, Dewilde S, Kiger L, Hamdane D, Uzan J, Burmester T, Hankeln T, Moens L, Baudin-Creuza V, Celier C, Wajcman H. Exploiting a list of protein sequences. Gene 2007 (in press).

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