-
1
-
-
0032433122
-
α-Thalassaemia
-
Sickle Cell Disease and Thalassaemia, edited by G.P. Rodgers, Harcourt Brace Publishers International, London, England
-
Bernini, L.F. and Harteveld, C.L.: α-Thalassaemia. In: Sickle Cell Disease and Thalassaemia, edited by G.P. Rodgers, Bailliere's Clinical Haematology, Vol. 11:1, pages 53-90, Harcourt Brace Publishers International, London, England, 1998.
-
(1998)
Bailliere's Clinical Haematology
, vol.11
, Issue.1
, pp. 53-90
-
-
Bernini, L.F.1
Harteveld, C.L.2
-
2
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller, S.A., Dykes, D.D., and Polesky, H.F.: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16:1215, 1988.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
3
-
-
0022456383
-
Frequency of α-thalassemia in Greece
-
Kanavakis, E., Tzotzos, S., Liapaki, A., Metaxotou-Mavromati, A., and Kattamis, C.: Frequency of α-thalassemia in Greece. Am. J. Hematol., 22:225-232, 1986.
-
(1986)
Am. J. Hematol.
, vol.22
, pp. 225-232
-
-
Kanavakis, E.1
Tzotzos, S.2
Liapaki, A.3
Metaxotou-Mavromati, A.4
Kattamis, C.5
-
4
-
-
0032450603
-
Erythroid marrow activity and hemoglobin levels in Hemoglobin H disease
-
Papassotiriou, I., Traeger-Synodinos, J., Kanavakis, E., Karagiorga, M., Stamoulakatou, A., and Kattamis, C.: Erythroid marrow activity and hemoglobin levels in Hemoglobin H disease. J. Pediatr. Hematol. Oncol., 20:539-544, 1998.
-
(1998)
J. Pediatr. Hematol. Oncol.
, vol.20
, pp. 539-544
-
-
Papassotiriou, I.1
Traeger-Synodinos, J.2
Kanavakis, E.3
Karagiorga, M.4
Stamoulakatou, A.5
Kattamis, C.6
-
5
-
-
0027431221
-
Characterization of non-deletion α-thalassemia mutations in the Greek population
-
Traeger-Synodinos, J., Kanavakis, E., Tzetis, M., Kattamis, A., and Kattamis, C.: Characterization of non-deletion α-thalassemia mutations in the Greek population. Am. J. Hematol., 44:162-167, 1993.
-
(1993)
Am. J. Hematol.
, vol.44
, pp. 162-167
-
-
Traeger-Synodinos, J.1
Kanavakis, E.2
Tzetis, M.3
Kattamis, A.4
Kattamis, C.5
-
6
-
-
0025135102
-
Locus assignment of human α-globin mutations by selective amplification and direct sequencing
-
Dodé, C., Rochette, J. and Krishnamoorthy, R.: Locus assignment of human α-globin mutations by selective amplification and direct sequencing. Br. J. Haematol.. 76:275-281, 1990.
-
(1990)
Br. J. Haematol.
, vol.76
, pp. 275-281
-
-
Dodé, C.1
Rochette, J.2
Krishnamoorthy, R.3
-
7
-
-
0024342726
-
Direct solid phase sequencingof genomic and plasmid DNA using magnetic beads as solid support
-
Hultman, T., Ståhl, S., Hornes, E., and Uhlen, M.: Direct solid phase sequencingof genomic and plasmid DNA using magnetic beads as solid support. Nucleic Acids Res., 17:4937-4946, 1989.
-
(1989)
Nucleic Acids Res.
, vol.17
, pp. 4937-4946
-
-
Hultman, T.1
Ståhl, S.2
Hornes, E.3
Uhlen, M.4
-
8
-
-
0017681196
-
DNA sequencing with chain terminating inhibitors
-
Sanger, F., Nicklen, S., and Coulson, A.R.: DNA sequencing with chain terminating inhibitors. Proc. Natl. Acad. Sci. USA, 74:5463-5467, 1977.
-
(1977)
Proc. Natl. Acad. Sci. USA
, vol.74
, pp. 5463-5467
-
-
Sanger, F.1
Nicklen, S.2
Coulson, A.R.3
-
9
-
-
0030883576
-
α-Thalassemia in The Netherlands: A heterogeneous spectrum of both deletions and point-mutations
-
Harteveld, C.L., Losekoot, M., Heister, J.G.A.M., v.d. Wielen, M., Giordano, P.C., and Bernini L.F.: α-Thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point-mutations. Hum. Genet., 100:465-471, 1997.
-
(1997)
Hum. Genet.
, vol.100
, pp. 465-471
-
-
Harteveld, C.L.1
Losekoot, M.2
Heister, J.G.A.M.3
V.D. Wielen, M.4
Giordano, P.C.5
Bernini, L.F.6
-
10
-
-
0042373031
-
Gene deletions in α-thalassemia prove that the 5′ζ is functional
-
Pressley, L., Higgs, D.R., Clegg, J.B., and Weatherall, D.J.: Gene deletions in α-thalassemia prove that the 5′ζ is functional. Proc. Natl. Acad. Sci. USA, 77:3586-3589, 1980.
-
(1980)
Proc. Natl. Acad. Sci. USA
, vol.77
, pp. 3586-3589
-
-
Pressley, L.1
Higgs, D.R.2
Clegg, J.B.3
Weatherall, D.J.4
-
11
-
-
0019972564
-
Globin structural mutant α 125 Leu→Pro is a novel cause of α-thalassemia
-
Goossens, M., Lee, K.J., Liebhaber, S.A., and Kan, Y.W.: Globin structural mutant α 125 Leu→Pro is a novel cause of α-thalassemia. Nature, 296:864-865, 1982.
-
(1982)
Nature
, vol.296
, pp. 864-865
-
-
Goossens, M.1
Lee, K.J.2
Liebhaber, S.A.3
Kan, Y.W.4
-
12
-
-
0029812967
-
2-chain variant associated with a mild α-thalassaemic phenotype
-
2-chain variant associated with a mild α-thalassaemic phenotype. Br. J. Haematol., 94:483-485, 1996.
-
(1996)
Br. J. Haematol.
, vol.94
, pp. 483-485
-
-
Harteveld, C.L.1
Giordano, P.C.2
Losekoot, M.3
Heister, J.G.A.M.4
Batelaan, D.5
Bruin, M.C.A.6
Bernini, L.F.7
-
13
-
-
34547199783
-
α-Thalassaemia due to a single codon deletion in the α1 globin gene. Computational structural analysis of the new α-chain variant
-
Mutation in Brief 132
-
Ayala, S., Colomer, D., Gelpí, J.L., and Vives Corrons, J.L.: α-Thalassaemia due to a single codon deletion in the α1 globin gene. Computational structural analysis of the new α-chain variant. Hum. Mutat., (Mutation in Brief 132), 1997.
-
(1997)
Hum. Mutat.
-
-
Ayala, S.1
Colomer, D.2
Gelpí, J.L.3
Vives Corrons, J.L.4
-
14
-
-
0003508804
-
-
The Sickle Cell Anemia Foundation, Augusta, GA, USA
-
Huisman, T.H.J., Carver, M.F.H., and Efremov, G.D.: A Syllabus of Human Hemoglobin Variants (Second Edition), The Sickle Cell Anemia Foundation, Augusta, GA, USA, 1998.
-
(1998)
A Syllabus of Human Hemoglobin Variants (Second Edition)
-
-
Huisman, T.H.J.1
Carver, M.F.H.2
Efremov, G.D.3
-
15
-
-
0000586458
-
The nature and mechanisms of human gene mutation
-
edited by C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, McGraw-Hill, Inc., New York, NY, USA
-
Cooper, D.N., Krawczak, M., and Antonarakis, S.E.: The nature and mechanisms of human gene mutation. In: The Metabolic and Molecular Basis of Inherited Disease, edited by C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, pages 259-291, McGraw-Hill, Inc., New York, NY, USA, 1995.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 259-291
-
-
Cooper, D.N.1
Krawczak, M.2
Antonarakis, S.E.3
-
16
-
-
0013997442
-
Frameshift mutations and the genetic code. Cold spring harbor ymposium
-
Cold Spring Harbor, NY, USA
-
Streisinger, G., Okada, Y., Emrich, J., Newton, J., Tsugita, A., Terzaghi, E., and Inouye, M.: Frameshift mutations and the genetic code. Cold Spring Harbor Symposium, Cold Spring Harbor, NY, USA. Quant. Biol., 31:77-84, 1966.
-
(1966)
Quant. Biol.
, vol.31
, pp. 77-84
-
-
Streisinger, G.1
Okada, Y.2
Emrich, J.3
Newton, J.4
Tsugita, A.5
Terzaghi, E.6
Inouye, M.7
-
17
-
-
0023256559
-
Slipped-strand mispairing: A major mechanism for DNA sequence evolution
-
Levinson, G. and Gutman, G.A.: Slipped-strand mispairing: a major mechanism for DNA sequence evolution. Mol. Biol. Evol., 4:203-221, 1987.
-
(1987)
Mol. Biol. Evol.
, vol.4
, pp. 203-221
-
-
Levinson, G.1
Gutman, G.A.2
-
18
-
-
0019996140
-
Model for the participation of quasi-palindromic DNA sequences in frameshift mutation
-
Ripley, L.S.: Model for the participation of quasi-palindromic DNA sequences in frameshift mutation. Proc. Natl. Acad. Sci. USA, 79:4128-4132, 1982.
-
(1982)
Proc. Natl. Acad. Sci. USA
, vol.79
, pp. 4128-4132
-
-
Ripley, L.S.1
-
19
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
-
Krawczak, M. and Cooper, D.N.: Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum. Genet., 86:425-441, 1991.
-
(1991)
Hum. Genet.
, vol.86
, pp. 425-441
-
-
Krawczak, M.1
Cooper, D.N.2
-
20
-
-
0002969161
-
Molecular anatomy, physiology and pathology of hemoglobin
-
edited by G. Stamatoyannopoulos, A.W. Nienhuis, P. Leder, and P. W. Majerus, W.B. Saunders Company, Philadelphia, PA, USA
-
Perutz, M.F.: Molecular anatomy, physiology and pathology of hemoglobin. In: The Molecular Basis of Blood Diseases, edited by G. Stamatoyannopoulos, A.W. Nienhuis, P. Leder, and P. W. Majerus, pages 127-178, W.B. Saunders Company, Philadelphia, PA, USA, 1987.
-
(1987)
The Molecular Basis of Blood Diseases
, pp. 127-178
-
-
Perutz, M.F.1
-
21
-
-
84984777580
-
Structure and subunit interaction of Haemoglobin Milwaukee
-
Perutz, M.F., Pulsinelli, P.D., and Ranney, H.M.: Structure and subunit interaction of Haemoglobin Milwaukee. Nature New Biol., 237:259-263, 1972.
-
(1972)
Nature New Biol.
, vol.237
, pp. 259-263
-
-
Perutz, M.F.1
Pulsinelli, P.D.2
Ranney, H.M.3
-
22
-
-
0024389720
-
2; an unstable hemoglobin causing a mild hemolytic anemia
-
2; an unstable hemoglobin causing a mild hemolytic anemia. Hemoglobin, 13:557-566, 1989.
-
(1989)
Hemoglobin
, vol.13
, pp. 557-566
-
-
Wilson, J.B.1
Webber, B.B.2
Kutlar, A.3
Reese, A.L.4
McKie, V.C.5
Lutcher, C.L.6
Felice, A.E.7
Huisman, T.H.J.8
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