-
1
-
-
0038654384
-
Pathophysiological-based approaches to treatment of sickle cell disease
-
Steinberg MH, Brugnara C. Pathophysiological-based approaches to treatment of sickle cell disease. Annu Rev Med. 2003;54:89-112.
-
(2003)
Annu Rev Med
, vol.54
, pp. 89-112
-
-
Steinberg, M.H.1
Brugnara, C.2
-
2
-
-
0001719775
-
Compound heterozygous and other sickle hemoglobinopathies
-
Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Cambridge: Cambridge University Press
-
Steinberg MH. Compound heterozygous and other sickle hemoglobinopathies. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of Hemoglobin Genetics, Pathophysiology, and Clinical Management. Cambridge: Cambridge University Press; 2001:786-810.
-
(2001)
Disorders of Hemoglobin Genetics, Pathophysiology, and Clinical Management
, pp. 786-810
-
-
Steinberg, M.H.1
-
3
-
-
0018905243
-
β-Chain contact sites in the haemoglobin S polymer
-
Nagel RL, Johnson J, Bookchin RM, et al. β-Chain contact sites in the haemoglobin S polymer. Nature. 1980;283:832-834.
-
(1980)
Nature
, vol.283
, pp. 832-834
-
-
Nagel, R.L.1
Johnson, J.2
Bookchin, R.M.3
-
4
-
-
0025071233
-
Hb Yamagata [β 132(H10)Lys → As]: A new abnormal hemoglobin in a Japanese family
-
Harano T, Harano K, Ueda S, et al. Hb Yamagata [β 132(H10)Lys → As]: a new abnormal hemoglobin in a Japanese family. Hemoglobin. 1990;14: 207-211.
-
(1990)
Hemoglobin
, vol.14
, pp. 207-211
-
-
Harano, T.1
Harano, K.2
Ueda, S.3
-
5
-
-
0029780551
-
A new observation of Hb Yamagata with a different nucleotide substitution: β 132 AAA → AAT
-
Han JY, Wee JH, Kim JM, et al. A new observation of Hb Yamagata with a different nucleotide substitution: β 132 AAA → AAT. Hemoglobin. 1996; 20:165-168.
-
(1996)
Hemoglobin
, vol.20
, pp. 165-168
-
-
Han, J.Y.1
Wee, J.H.2
Kim, J.M.3
-
6
-
-
0016828450
-
Hemoglobin C Ziguinchor αA2 β62 (A3) Glu leads to Val β58 (E2) Pro leads to Arg: The second sickling variant with amino acid substitutions in 2 residues of the β polypeptide chain
-
Goossens M, Garel MC, Auvinet J, et al. Hemoglobin C Ziguinchor αA2 β62 (A3) Glu leads to Val β58 (E2) Pro leads to Arg: the second sickling variant with amino acid substitutions in 2 residues of the β polypeptide chain. FEBS Lett. 1975;58:149-154.
-
(1975)
FEBS Lett
, vol.58
, pp. 149-154
-
-
Goossens, M.1
Garel, M.C.2
Auvinet, J.3
-
7
-
-
0017654025
-
Properties of the double substituted hemoglobin C Ziguinchor α2A β2 6 Glu replaced by Val 58 Pro replaced by Arg
-
Hassan W, Basset P, Oudart JL, et al. Properties of the double substituted hemoglobin C Ziguinchor α2A β2 6 Glu replaced by Val 58 Pro replaced by Arg. Hemoglobin. 1977;1:487-501.
-
(1977)
Hemoglobin
, vol.1
, pp. 487-501
-
-
Hassan, W.1
Basset, P.2
Oudart, J.L.3
-
8
-
-
0014021896
-
Hemoglobin C Harlem: A sickling variant containing amino acid substitutions in two residues of the β-polypeptide chain
-
Bookchin RM, Nagel RL, Ranney HM, et al. Hemoglobin C Harlem: a sickling variant containing amino acid substitutions in two residues of the β-polypeptide chain. Biochem Biophys Res Commun. 1966;23: 122-127.
-
(1966)
Biochem Biophys Res Commun
, vol.23
, pp. 122-127
-
-
Bookchin, R.M.1
Nagel, R.L.2
Ranney, H.M.3
-
9
-
-
0023720269
-
Hb A-like sickle haemoglobin: Hb S-Providence
-
Gale RE, Blair NE, Huehns ER, et al. Hb A-like sickle haemoglobin: Hb S-Providence. Br J Haematol. 1988;70:251-252.
-
(1988)
Br J Haematol
, vol.70
, pp. 251-252
-
-
Gale, R.E.1
Blair, N.E.2
Huehns, E.R.3
-
10
-
-
0017412345
-
Hemoglobin S Travis: A sickling hemoglobin with two amino acid substitutions [β6(A3)glutamic acid leads to valine and β142 (H20) alanine leads to valine]
-
Moo-Penn WF, Schmidt RM, Jue DL, et al. Hemoglobin S Travis: a sickling hemoglobin with two amino acid substitutions [β6(A3)glutamic acid leads to valine and β142 (H20) alanine leads to valine]. Eur J Biochem. 1977;77:561-566.
-
(1977)
Eur J Biochem
, vol.77
, pp. 561-566
-
-
Moo-Penn, W.F.1
Schmidt, R.M.2
Jue, D.L.3
-
11
-
-
0010114289
-
6Glu → Val, 23Val → 11e): A new variant with lower solubility than Hb S and producing sickle cell disease in heterozygotes
-
6Glu → Val, 23Val → 11e): a new variant with lower solubility than Hb S and producing sickle cell disease in heterozygotes. Proc Natl Acad Sci USA. 1986;83: 9363-9367.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 9363-9367
-
-
Monplaisir, N.1
Merault, G.2
Poyart, C.3
-
12
-
-
4744346555
-
Hemoglobin Jamaica Plain - A sickling hemoglobin with reduced oxygen affinity
-
Geva A, Clark JJ, Zhang Y, et al. Hemoglobin Jamaica Plain - A sickling hemoglobin with reduced oxygen affinity. N Engl J Med. 2004;351: 1532-1538.
-
(2004)
N Engl J Med
, vol.351
, pp. 1532-1538
-
-
Geva, A.1
Clark, J.J.2
Zhang, Y.3
-
13
-
-
0032400879
-
Hb S-Oman heterozygote: A new dominant sickle syndrome
-
Nagel RL, Daar S, Romero JR, et al. Hb S-Oman heterozygote: a new dominant sickle syndrome. Blood. 1998;92:4375-4382.
-
(1998)
Blood
, vol.92
, pp. 4375-4382
-
-
Nagel, R.L.1
Daar, S.2
Romero, J.R.3
-
15
-
-
0026018259
-
Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori
-
Witkowska HE, Lubin BH, Beuzard Y, et al. Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori. N Engl J Med. 1991;325:1150-1154.
-
(1991)
N Engl J Med
, vol.325
, pp. 1150-1154
-
-
Witkowska, H.E.1
Lubin, B.H.2
Beuzard, Y.3
-
16
-
-
0017654585
-
Hemoglobin Arlington Park: A new hemoglobin variant with two amino acid substitutions in the β chain
-
Adams JG III, Heller P. Hemoglobin Arlington Park: a new hemoglobin variant with two amino acid substitutions in the β chain. Hemoglobin. 1977;1:419-426.
-
(1977)
Hemoglobin
, vol.1
, pp. 419-426
-
-
Adams III, J.G.1
Heller, P.2
-
17
-
-
0036190154
-
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
-
Hardison RC, Chui DHK, Giardine B, et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19:225-233. Available at http://globin. cse.psu.edu.
-
(2002)
Hum Mutat
, vol.19
, pp. 225-233
-
-
Hardison, R.C.1
Chui, D.H.K.2
Giardine, B.3
-
18
-
-
2442680344
-
A new variant with two amino acid substitutions: Hb S-Cameroon [βa6(A3)Glu>Val;β90(F6)Glu>Lys]
-
Bundgaard JR. A new variant with two amino acid substitutions: Hb S-Cameroon [βa6(A3)Glu>Val;β90(F6)Glu>Lys]. Hemoglobin. 2004;28:131-135.
-
(2004)
Hemoglobin
, vol.28
, pp. 131-135
-
-
Bundgaard, J.R.1
|