References
- Lacan P, Kister J, Francina A, Souillet G, Galactéros F, Delaunay J, Wajcman H. Hemoglobin Debrousse [β96(FG3)Leug→Pro]: a new unstable hemoglobin with twofold increased oxygen affinity. Am J Hematol 1996; 51(4)276–281
- Morlé F, Francina A, Ducrocq R, Wajcman H, Gonnet C, Philippe N, Souillet G, Godet J. A new α chain variant Hb Sallanches [α2 104(G11)Cys→Tyr] associated with Hb H disease in one homozygous patient. Br J Haematol 1995; 91(3)608–611
- Masala B, Manca L. Detection of globin chains by reversed‐phase high‐performance liquid chromatography. Meth Enzymol 1994; 231: 21–44
- ExPASy Molecular Biology Server:http://www.us.expasy.org/tools/peptide‐mass.html
- Blencowe B J. Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem Sci 2000; 25(3)106–110
- Roca X, Sachidanandam R, Krainer A R. Intrinsic differences between authentic and cryptic 5′ splice sites. Nucleic Acids Res 2003; 31(21)6321–6333
- Cartegni L, Wang J, Zhu Z, Zhang M Q, Krainer A R. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003; 31(13)3568–3571
- Blouquit Y, Arous N, Machado P EA, Garel M C. Hb Henri Mondor: β26(B8)Glu→Val: a variant with a substitution localized at the same position as that of Hb E β26 Glu→Lys. FEBS Lett 1976; 72(1)5–7
- Bardakdjian J, Arous N, Kister J, Blouquit Y, Giacomini T, Lacombe C, Riou J, Hafsia R, Rosa J, Galacteros F. Further characterization of Hb Henri Mondor or α2β226(B8)Glu→Val. Hemoglobin 1987; 11(1)1–11
- Lacan P, Francina A, Promé D, Delaunay J, Galactéros F, Wajcman H. Hb Aubenas [β26(B8)Glu→Gly]: a new variant normally synthetized, affecting the same codon as in Hb E. Hemoglobin 1996; 20(2)113–124
- Orkin S H, Kazazian H H, Jr, Antonarakis S E, Ostrer H, Goff S C, Sexton J P. Abnormal RNA processing due to the exon mutation of the βE‐globin gene. Nature 1982; 300(5894)768–769
- Chong S S, Boehm C D, Higgs D R, Cutting G R. Single‐tube multiplex‐PCR screen for common deletional determinants of α‐thalassemia. Blood 2000; 95(1)360–362
- Schmidt R M, Bechtel K C, Johnson M H, Therrell B L, Jr, Moo‐Penn W F. Hemoglobin Lufkin: β29(B11)Gly→Asp. An unstable hemoglobin variant involving an internal amino acid residue. Hemoglobin 1977; 1(8)799–814
- Gu L H, Leonova J Y, Huisman T HJ. Hb S–Hb Lufkin disease in a black male infant. Hemoglobin 1995; 19(5)291–294
- Shimizu K, Keino H, Takenaka O. Hemoglobin Lufkin [β29(B11)Gly→Asp] in a Japanese. Hemoglobin 1988; 12(1)81–85