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8. Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity. Wajcman H; Girodon E; Promé D; North ML; Plassa F; Duwig I; Kister J; Bergerat JP; Oberling F; Lampert E Hum Genet; 1995 Dec; 96(6):711-6. PubMed ID: 8522332 [TBL] [Abstract][Full Text] [Related]
9. Hb Sitia [beta128(H6)Ala-->Val]: an unstable variant with a substitution in the alpha1beta1 interface. Papassotiriou I; Traeger-Synodinos J; Promé D; Kister J; Vrettou C; Xaidara A; Marden M; Stamoulakatou A; Wajcman H; Kanavakis E Hemoglobin; 2001 Feb; 25(1):45-56. PubMed ID: 11300349 [TBL] [Abstract][Full Text] [Related]
11. Hb Cardarelli [beta86(F2)Ala-->Pro]: a new unstable and hyperaffine variant in association with beta(+)-thalassemia. Pagano L; Salzano AM; Carbone V; Iannelli D; Viola A; Pollio F; Prossomariti L; David O; Ricco G; Pucci P Hemoglobin; 2004 May; 28(2):103-15. PubMed ID: 15182052 [TBL] [Abstract][Full Text] [Related]
12. Hb Nebraska [β86(F2)Ala→Ile (HBB:c.259G>A;260C>T)]: a unique high oxygen affinity hemoglobin variant with a double nucleotide substitution within the same codon. Hoyer JD; Wendt PC; Hogan WJ; Oliveira JL Hemoglobin; 2011; 35(1):22-7. PubMed ID: 21250878 [TBL] [Abstract][Full Text] [Related]
13. Hb Marineo [beta70(E14)Ala-->Val]: a silent hemoglobin variant with a mutation within the heme pocket. Giambona A; Vinciguerra M; Cassarà F; Li Muli R; Leto F; Passarello C; Wajcman H; Maggio A Hemoglobin; 2006; 30(2):139-48. PubMed ID: 16798637 [TBL] [Abstract][Full Text] [Related]
14. Hb Alperton [beta135(H13)Ala-->Val] shows decreased oxygen affinity. Zurbriggen K; Schmid M; Schmugge M; Troxler H; Speer O Hemoglobin; 2009; 33(6):498-502. PubMed ID: 19958196 [TBL] [Abstract][Full Text] [Related]
15. A new high affinity variant Hb Aurillac (β141Leu→Val). Boursier G; Trouillier S; Blaizot MG; Igual H; Schved JF; Martinez PA Hemoglobin; 2013; 37(6):584-8. PubMed ID: 23859762 [TBL] [Abstract][Full Text] [Related]
16. Hb Santa Clara (beta 97His-->Asn), a human haemoglobin variant: functional characterization and structure modelling. De Rosa MC; Carelli Alinovi C; Schininà ME; Clementi ME; Amato A; Cappabianca MP; Pezzotti M; Giardina B Biochim Biophys Acta; 2007 Oct; 1774(10):1299-306. PubMed ID: 17881306 [TBL] [Abstract][Full Text] [Related]
17. Hb Grove City [β38(C4)Thr→Ser, ACC>AGC; HBB: c.116C>G]: a new low oxygen affinity β chain variant. Taliercio RM; Ashton RW; Horwitz L; Swanson KC; Wendt PC; Hoyer JD; Oliveira JL Hemoglobin; 2013; 37(4):396-403. PubMed ID: 23651408 [TBL] [Abstract][Full Text] [Related]
18. Hb Montfermeil [beta 130(H8) Tyr-->Cys]: suggests a key role for the interaction between helix A and H in oxygen affinity of the hemoglobin molecule. Kister J; Baudin-Creuza V; Kiger L; Préhu C; Papassotiriou I; Riou J; Galactéros F; Wajcman H Blood Cells Mol Dis; 2005; 34(2):166-73. PubMed ID: 15727901 [TBL] [Abstract][Full Text] [Related]
19. Adult and fetal haemoglobin J-Sardegna [alpha50(CE8)His-->Asp]: functional and molecular modelling studies. Corda M; De Rosa MC; Pellegrini MG; Sanna MT; Olianas A; Fais A; Manca L; Masala B; Zappacosta B; Ficarra S; Castagnola M; Giardina B Biochem J; 2000 Feb; 346 Pt 1(Pt 1):193-9. PubMed ID: 10657257 [TBL] [Abstract][Full Text] [Related]
20. Identification of three new nucleotide substitutions in the β-globin gene: laboratoristic approach and impact on genetic counselling for beta-thalassaemia. Vinciguerra M; Passarello C; Leto F; Cassarà F; Cannata M; Maggio A; Giambona A Eur J Haematol; 2014; 92(5):444-9. PubMed ID: 24401016 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]