-
1
-
-
0029757377
-
Haemoglobin Lleida: A new a2-globin variant (12 bp deletion) with mild thalassaemic phenotype
-
Ayala. S., Colomer, D., Pujades. A., Aymerich, M. & Vives Corrons, J. LI. (1996) Haemoglobin Lleida: a new a2-globin variant (12 bp deletion) with mild thalassaemic phenotype. British Journal of Haematology, 94, 639-644.
-
(1996)
British Journal of Haematology
, vol.94
, pp. 639-644
-
-
Ayala, S.1
Colomer, D.2
Pujades, A.3
Aymerich, M.4
Vives Corrons, J.5
-
2
-
-
0015422248
-
A simple method for the detection of unstable haemoglobins
-
Carrell, R.W. & Kay. R.A. (1972) A simple method for the detection of unstable haemoglobins. British Journal of Haematology. 23, 615-619.
-
(1972)
British Journal of Haematology.
, vol.23
, pp. 615-619
-
-
Carrell, R.W.1
Kay, R.A.2
-
3
-
-
0025744705
-
Mechanism of insertional mutagenesis in human genes causing genetic disease
-
Cooper, D.N. & Krawczak. M. (1991) Mechanism of insertional mutagenesis in human genes causing genetic disease. Human Genetics, 87,409-415.
-
(1991)
Human Genetics
, vol.87
, pp. 409-415
-
-
Cooper, D.N.1
Krawczak, M.2
-
5
-
-
0014735789
-
An oxyhemoglobin dissociation analyzer
-
Duvelleroy, M.A., Buckles, R.G.. Rosenkaimer, S., Tung, C. & Laver, M.B. (1970) An oxyhemoglobin dissociation analyzer. Journal of Applied Physiology. 28, 227-233.
-
(1970)
Journal of Applied Physiology.
, vol.28
, pp. 227-233
-
-
Duvelleroy, M.A.1
Buckles, R.G.2
Rosenkaimer, S.3
Tung, C.4
Laver, M.B.5
-
6
-
-
0028228875
-
Hb Taybe (α 38 or 39 Thr deleted): An α-globin defect, silent in the heterozygous state and producing severe hemolytic anemia in the homozygous
-
Galacteros, F., Girodon, E., M'Rad, A., Martin, J., Goossens, M., Jaber, L.. Cohen, I.J., Tamary, H., Goshen, J., Zaizov. R. & Wajcman. H. (1994) Hb Taybe (α 38 or 39 Thr deleted): an α-globin defect, silent in the heterozygous state and producing severe hemolytic anemia in the homozygous. Comptes Rendus de l'Académie des Sciences, Série III, Sciences de la Vie/Life Sciences, 317, 437-444.
-
(1994)
Comptes Rendus De L'Académie Des Sciences, Série III, Sciences De La Vie/Life Sciences
, vol.317
, pp. 437-444
-
-
Galacteros, F.1
Girodon, E.2
M'Rad, A.3
Martin, J.4
Goossens, M.5
Jaber, L.6
Cohen, I.J.7
Tamary, H.8
Goshen, J.9
Zaizov, R.10
Wajcman, H.11
-
7
-
-
0024435039
-
Molecular aspects of heavy 7-chain class switching
-
Gritzmacher, C.A. (1989) Molecular aspects of heavy 7-chain class switching. Critical Reviews of Immunology, 9, 173-200.
-
(1989)
Critical Reviews of Immunology
, vol.9
, pp. 173-200
-
-
Gritzmacher, C.A.1
-
8
-
-
6844247791
-
Variant list
-
International Hemoglobin Information Center (1996) Variant list. Hemoglobin, 20, 213-337.
-
(1996)
Hemoglobin
, vol.20
, pp. 213-337
-
-
-
9
-
-
0019519352
-
Spectral, conformational and chemical properties of opossum methemoglobin
-
John, M.E. & Waterman, M.R. (1981) Spectral, conformational and chemical properties of opossum methemoglobin. European Journal of Biochemistry, 115, 1-6.
-
(1981)
European Journal of Biochemistry
, vol.115
, pp. 1-6
-
-
John, M.E.1
Waterman, M.R.2
-
10
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
-
Krawczak, M. & Cooper, D.N. (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Human Genetics, 86,425-441.
-
(1991)
Human Genetics
, vol.86
, pp. 425-441
-
-
Krawczak, M.1
Cooper, D.N.2
-
11
-
-
0024847748
-
Hb Catonsville (glutamic acid inserted between Pro37(C2) a and Thr-38(C3)a)
-
Moo-Pcnn, WE. Swan, D.C.. Hine, T.K., Baine, R.M., Jue, D.L., Benson, J.M., Johnson, M.H., Virshup, D.M. & Zinkham, WH. (1989) Hb Catonsville (glutamic acid inserted between Pro37(C2) a and Thr-38(C3)a). Journal of Biological Chemistry. 264, 21454-21457.
-
(1989)
Journal of Biological Chemistry.
, vol.264
, pp. 21454-21457
-
-
Moo-Pcnn, W.E.1
Swan, D.C.2
Hine, T.K.3
Baine, R.M.4
Jue, D.L.5
Benson, J.M.6
Johnson, M.H.7
Virshup, D.M.8
Zinkham, W.H.9
-
12
-
-
0025823665
-
A spontaneous deletion of β33/34 Val in exon 2 of the β globin gene (Hb Korea) produces the phenotype of dominant β thalassaemia
-
Park, S.S., Barnetson, R., Kirn, S.W., Weatherall, D.J. & Thein, S.L. (1991) A spontaneous deletion of β33/34 Val in exon 2 of the β globin gene (Hb Korea) produces the phenotype of dominant β thalassaemia. British Journal of Haematology. 78, 581-582.
-
(1991)
British Journal of Haematology.
, vol.78
, pp. 581-582
-
-
Park, S.S.1
Barnetson, R.2
Kirn, S.W.3
Weatherall, D.J.4
Thein, S.L.5
-
13
-
-
0000943392
-
Electrophoretic mobilities of mutant hemoglobins and mutant globin chains
-
Schneider, R.G. & Barwick, R.C. (1986) Electrophoretic mobilities of mutant hemoglobins and mutant globin chains. In CRC Handbook Series in Clinical Laboratory Science, Section I: Hematology, Vol. IV. CRC Press, Boca Raton, Florida.
-
(1986)
In CRC Handbook Series in Clinical Laboratory Science, Section I: Hematology, Vol. IV. CRC Press, Boca Raton, Florida.
-
-
Schneider, R.G.1
Barwick, R.C.2
-
14
-
-
0027729406
-
Structural characterization of abnormal hemoglobins from dried blood specimens in a neonatal screening program
-
Wajcman, H., Bardakdjian, J. & Ducrocq. R. (1993) Structural characterization of abnormal hemoglobins from dried blood specimens in a neonatal screening program. Annales de Biologie Clinique. 50, 867-870.
-
(1993)
Annales De Biologie Clinique.
, vol.50
, pp. 867-870
-
-
Wajcman, H.1
Bardakdjian, J.2
Ducrocq, R.3
-
15
-
-
0026786423
-
Two new human hemoglobin variants due to rare mutational events: Hb Zaïre that contains a five residue repetition within the a-chain and Hb Duino that has two residues substituted in the /3-chain
-
Wajcman, H., Blouquit, Y, Vasseur, C., LeQuerrec, A., Laniece, M., Melevendi, C., Rasore, A. & Galacteros, F. (1992) Two new human hemoglobin variants due to rare mutational events: Hb Zaïre that contains a five residue repetition within the a-chain and Hb Duino that has two residues substituted in the /3-chain. Human Genetics, 89, 676-680.
-
(1992)
Human Genetics
, vol.89
, pp. 676-680
-
-
Wajcman, H.1
Blouquit, Y.2
Vasseur, C.3
Lequerrec, A.4
Laniece, M.5
Melevendi, C.6
Rasore, A.7
Galacteros, F.8
-
16
-
-
33847476834
-
Hemoglobin Phnom Penh [all7 Phe (HI) He - 118 Thr (H2)]: Evidence for a hotspot for insertion of residues in the third exon of the al-globin gene
-
Wajcman, H., Préhu, M.O., Préhu, C., Blouquit, Y., Promé, D. & Galacteros, F. (1997) Hemoglobin Phnom Penh [all7 Phe (HI) He - 118 Thr (H2)]: evidence for a hotspot for insertion of residues in the third exon of the al-globin gene. Human Mutation Mutation in brief #22. Online.
-
(1997)
Human Mutation Mutation in Brief #
, vol.22
-
-
Wajcman, H.1
Préhu, M.O.2
Préhu, C.3
Blouquit, Y.4
Promé, D.5
Galacteros, F.6
-
17
-
-
0020490330
-
Specific sequences in native DMA that arrest synthesis by DNA polymerase a
-
Weaver. D.T. & DePamphilis, M.L. (1982) Specific sequences in native DMA that arrest synthesis by DNA polymerase a. Journal of Biological Chemistry, 257, 2075-22086.
-
(1982)
Journal of Biological Chemistry
, vol.257
, pp. 2075-22086
-
-
Weaver, D.T.1
Depamphilis, M.L.2
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