메뉴 건너뛰기




Volumn 2, Issue 4, 2001, Pages 245-255

Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; HEMOGLOBIN; IRON;

EID: 0035320886     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/35066048     Document Type: Review
Times cited : (556)

References (81)
  • 1
    • 0004198466 scopus 로고    scopus 로고
    • Blackwell Science, Oxford
    • Weatherall, D. J. & Clegg, J. B. The Thalassaemia Syndromes 4th edn (Blackwell Science, Oxford, 2001). The principal monograph on thalassaemia: the fourth edition covers every aspect of the field and contains over 3,000 references.
    • (2001) The Thalassaemia Syndromes 4th Edn
    • Weatherall, D.J.1    Clegg, J.B.2
  • 2
    • 0029843953 scopus 로고    scopus 로고
    • Thalassaemia - a global public health problem
    • Weatherall, D. J. & Clegg, J. B. Thalassaemia - a global public health problem. Nature Med. 2, 847-849 (1996).
    • (1996) Nature Med. , vol.2 , pp. 847-849
    • Weatherall, D.J.1    Clegg, J.B.2
  • 4
    • 0003678651 scopus 로고    scopus 로고
    • (eds Stamatoyannopoulos, G., Majerus, P. W., Perimutter, R. M. & Varmus, H.) Saunders, New York
    • Stamatoyannopoulos, G. & Grosveld, F. in The Molecular Basis of Blood Disease (eds Stamatoyannopoulos, G., Majerus, P. W., Perimutter, R. M. & Varmus, H.) 135-182 (Saunders, New York, 2001). An excellent up-to-date review on what is known about the mechanisms of the differential expression of the globin genes during development.
    • (2001) The Molecular Basis of Blood Disease , pp. 135-182
    • Stamatoyannopoulos, G.1    Grosveld, F.2
  • 8
    • 0020376275 scopus 로고
    • ε-globin gene
    • ε-globin gene. Nature 300, 768-769 (1982).
    • (1982) Nature , vol.300 , pp. 768-769
    • Orkin, S.H.1
  • 9
    • 0032416140 scopus 로고    scopus 로고
    • Pathophysiology of thalassaemia
    • Weatherall, D. J. Pathophysiology of thalassaemia. Clin. Haematol. 11, 127-146 (1998).
    • (1998) Clin. Haematol. , vol.11 , pp. 127-146
    • Weatherall, D.J.1
  • 10
    • 0015881811 scopus 로고
    • A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia
    • Weatherall, D. J. et al. A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia. Br. J. Haematol. 24, 681-702 (1973).
    • (1973) Br. J. Haematol. , vol.24 , pp. 681-702
    • Weatherall, D.J.1
  • 11
    • 0016401623 scopus 로고
    • Inclusion-body β-thalassemia trait. a form of β thalassemia producing clinical manifestations in simple heterozygotes
    • Stamatoyannopoulos, G., Woodson, R., Papayannopoulou, T., Heywood, D. & Kurachi, M. S. Inclusion-body β-thalassemia trait. A form of β thalassemia producing clinical manifestations in simple heterozygotes. N. Engl. J. Med. 290, 939-943 (1974).
    • (1974) N. Engl. J. Med. , vol.290 , pp. 939-943
    • Stamatoyannopoulos, G.1    Woodson, R.2    Papayannopoulou, T.3    Heywood, D.4    Kurachi, M.S.5
  • 15
    • 0031012244 scopus 로고    scopus 로고
    • Genetic analysis of β-thalassemia intermedia in Israel: Diversity of mechanisms and unpredictability of phenotype
    • Rund, D. et al. Genetic analysis of β-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype. Am. J. Hematol. 54, 16-22 (1997).
    • (1997) Am. J. Hematol. , vol.54 , pp. 16-22
    • Rund, D.1
  • 16
    • 0031972656 scopus 로고    scopus 로고
    • β thalassaemia intermedia: Is it possible to predict phenotype from genotype?
    • Ho, P. J., Hall, G. W., Luo, L. Y., Weatherall, D. J. & Thein, S. L. β thalassaemia intermedia: is it possible to predict phenotype from genotype? Br. J. Haematol. 100, 70-78 (1998). The most complete analysis so far of the molecular mechanisms for the milder forms of β-thalassaemia.
    • (1998) Br. J. Haematol. , vol.100 , pp. 70-78
    • Ho, P.J.1    Hall, G.W.2    Luo, L.Y.3    Weatherall, D.J.4    Thein, S.L.5
  • 17
    • 0004047582 scopus 로고    scopus 로고
    • The Sickle Cell Anemia Foundation, Augusta, Georgia
    • Huisman, T. H. J., Carver, M. F. H. & Baysal, E. A Syllabus of Thalassemia Mutations 1-309 (The Sickle Cell Anemia Foundation, Augusta, Georgia, 1997). A complete and detailed catalogue of all the published thalassaemia mutations and their geographical distribution up to 1997.
    • (1997) A Syllabus of Thalassemia Mutations , pp. 1-309
    • Huisman, T.H.J.1    Carver, M.F.H.2    Baysal, E.3
  • 18
    • 0014672171 scopus 로고
    • The silent carrier of β thalassemia
    • Schwartz, E. The silent carrier of β thalassemia. N. Engl. J. Med. 281, 1327-1333 (1969).
    • (1969) N. Engl. J. Med. , vol.281 , pp. 1327-1333
    • Schwartz, E.1
  • 19
    • 0024477306 scopus 로고
    • A CØT substitution at nt-101 in a conserved DNa sequence of the promoter region of the β-globin gene is associated with 'silent' β-thalassemia
    • Gonzalez-Redondo, J. H. et al. A CØT substitution at nt-101 in a conserved DNA sequence of the promoter region of the β-globin gene is associated with 'silent' β-thalassemia. Blood 73, 1705-1711 (1989).
    • (1989) Blood , vol.73 , pp. 1705-1711
    • Gonzalez-Redondo, J.H.1
  • 20
    • 17644447555 scopus 로고    scopus 로고
    • Silent thalassemias: Genotypes and phenotypes
    • Bianco, I. et al. Silent thalassemias: genotypes and phenotypes. Haematologica 82, 269-280 (1997).
    • (1997) Haematologica , vol.82 , pp. 269-280
    • Bianco, I.1
  • 21
    • 0023782895 scopus 로고
    • Clinical and genetic heterogeneity in black patients with homozygous β-thalassemia from the Southeastern United States
    • Gonzalez-Redondo, J. H. et al. Clinical and genetic heterogeneity in black patients with homozygous β-thalassemia from the Southeastern United States. Blood 72, 1007-1014 (1988).
    • (1988) Blood , vol.72 , pp. 1007-1014
    • Gonzalez-Redondo, J.H.1
  • 23
    • 0028291289 scopus 로고
    • Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with β-thalassaemia due to a homozygosity for the IVS-1-6 (T-C) mutation
    • Efremov, D. et al. Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with β-thalassaemia due to a homozygosity for the IVS-1-6 (T-C) mutation. Br. J. Haematol. 86, 824-830 (1994).
    • (1994) Br. J. Haematol. , vol.86 , pp. 824-830
    • Efremov, D.1
  • 24
    • 0025292312 scopus 로고
    • Molecular basis for dominantly inherited inclusion body β thalassemia
    • Thein, S. L. et al. Molecular basis for dominantly inherited inclusion body β thalassemia. Proc. Natl Acad. Sci. USA 87, 3924-3928 (1990).
    • (1990) Proc. Natl Acad. Sci. USA , vol.87 , pp. 3924-3928
    • Thein, S.L.1
  • 25
    • 0031029914 scopus 로고    scopus 로고
    • Erythroblastic inclusions in dominantly inherited β thalassaemias
    • Ho, P. J. et al. Erythroblastic inclusions in dominantly inherited β thalassaemias. Blood 89, 322-328 (1997).
    • (1997) Blood , vol.89 , pp. 322-328
    • Ho, P.J.1
  • 26
    • 0012739361 scopus 로고
    • Thalassemia mutations in exon 3 of the β-globin gene often cause a dominant form of thalassemia and show no predilection for malarial-endemic regions of the world
    • Kazazian, H. H., Dowling, C. E., Hurwitz, R. L., Coleman, M. & Adams, J. G. I. Thalassemia mutations in exon 3 of the β-globin gene often cause a dominant form of thalassemia and show no predilection for malarial-endemic regions of the world. Am. J. Hum. Genet 45, A242 (1989).
    • (1989) Am. J. Hum. Genet , vol.45
    • Kazazian, H.H.1    Dowling, C.E.2    Hurwitz, R.L.3    Coleman, M.4    Adams, J.G.I.5
  • 27
    • 0026514523 scopus 로고
    • Dominant β thalassaemia: Molecular basis and pathophysiology
    • Thein, S.L. Dominant β thalassaemia: molecular basis and pathophysiology. Br. J. Haematol. 80, 273-277 (1992).
    • (1992) Br. J. Haematol. , vol.80 , pp. 273-277
    • Thein, S.L.1
  • 28
    • 0032709384 scopus 로고    scopus 로고
    • Is it dominantly inherited β thalassaemia or just a β-chain variant that is highly unstable?
    • Thein, S. L. Is it dominantly inherited β thalassaemia or just a β-chain variant that is highly unstable? Br. J. Haematol. 107, 12-21 (1999). An extensive review of the pathophysiology of the dominant β-thalassaemias.
    • (1999) Br. J. Haematol. , vol.107 , pp. 12-21
    • Thein, S.L.1
  • 29
    • 0027279421 scopus 로고
    • Messenger RNA degradaton in eukaryotes
    • Sachs, A. B. Messenger RNA degradaton in eukaryotes. Cell 74, 413-421 (1993).
    • (1993) Cell , vol.74 , pp. 413-421
    • Sachs, A.B.1
  • 30
    • 0032526946 scopus 로고    scopus 로고
    • Binary specification of nonsense codons by splicing and cytoplasmic translation
    • Thermann, R. et al. Binary specification of nonsense codons by splicing and cytoplasmic translation. EMBO J. 17, 3484-3494 (1998).
    • (1998) EMBO J. , vol.17 , pp. 3484-3494
    • Thermann, R.1
  • 31
    • 0031870169 scopus 로고    scopus 로고
    • Intron function in the nonsense-mediated decay of β-globin mRNA: Indications that pre-mRNA splicing in the nucleus can influence mRNA translation in the cytoplasm
    • Zhang, J., Sun, X., Qian, Y. & Maquat, L. E. Intron function in the nonsense-mediated decay of β-globin mRNA: indications that pre-mRNA splicing in the nucleus can influence mRNA translation in the cytoplasm. RNA 4, 801-815 (1998).
    • (1998) RNA , vol.4 , pp. 801-815
    • Zhang, J.1    Sun, X.2    Qian, Y.3    Maquat, L.E.4
  • 33
    • 0018814357 scopus 로고
    • The clinical and molecular heterogeneity of the thalassaemia syndromes
    • Weatherall, D. J. et al. The clinical and molecular heterogeneity of the thalassaemia syndromes. Ann. NY Acad. Sci. 344, 83-100 (1980).
    • (1980) Ann. NY Acad. Sci. , vol.344 , pp. 83-100
    • Weatherall, D.J.1
  • 35
    • 0034603546 scopus 로고    scopus 로고
    • Thalassaemia in Sri Lanka: Implications for the future health burden of Asian populations
    • De Silva, S. et al. Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations. Lancet 355, 786-791 (2000).
    • (2000) Lancet , vol.355 , pp. 786-791
    • De Silva, S.1
  • 36
    • 0014770367 scopus 로고
    • Mild thalassemia: The result of interactions of α and β thalassemia genes
    • Kan, Y. W. & Nathan, D. G. Mild thalassemia: the result of interactions of α and β thalassemia genes. J. Clin. Invest. 49, 635-642 (1970).
    • (1970) J. Clin. Invest. , vol.49 , pp. 635-642
    • Kan, Y.W.1    Nathan, D.G.2
  • 37
    • 0024338661 scopus 로고
    • ○-thalassemia intermedia in Sardinia
    • ○-thalassemia intermedia in Sardinia. Blood 74, 823-827 (1989).
    • (1989) Blood , vol.74 , pp. 823-827
    • Galanello, R.1
  • 38
    • 0019450469 scopus 로고
    • The molecular basis for mild forms of homozygous β thalassaemia
    • Weatherall, D. J., Pressley, L, Wood, W. G., Higgs, D. R. & Clegg, J. B. The molecular basis for mild forms of homozygous β thalassaemia. Lancet 1, 527-529 (1981).
    • (1981) Lancet , vol.1 , pp. 527-529
    • Weatherall, D.J.1    Pressley, L.2    Wood, W.G.3    Higgs, D.R.4    Clegg, J.B.5
  • 40
    • 0016793039 scopus 로고
    • Fetal hemoglobin restriction to a few erythrocytes (F cells) in normal human adults
    • Boyer, S. H., Belding, T. K., Margolet, L. & Noyes, A. N. Fetal hemoglobin restriction to a few erythrocytes (F cells) in normal human adults. Science 188, 361-363 (1975).
    • (1975) Science , vol.188 , pp. 361-363
    • Boyer, S.H.1    Belding, T.K.2    Margolet, L.3    Noyes, A.N.4
  • 41
    • 0033230344 scopus 로고    scopus 로고
    • Why are hemoglobin F levels increased in Hb E/β thalassemia?
    • Rees, D. C., Porter, J. B., Clegg, J. B. & Weatherall, D. J. Why are hemoglobin F levels increased in Hb E/β thalassemia? Blood 94, 3199-3204 (1999).
    • (1999) Blood , vol.94 , pp. 3199-3204
    • Rees, D.C.1    Porter, J.B.2    Clegg, J.B.3    Weatherall, D.J.4
  • 42
    • 0033966370 scopus 로고    scopus 로고
    • Genetic influences on F cells and other hematologic variables: A twin heritability study
    • Garner, C. et al. Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood 95, 342-346 (2000). The most extensive study so far on the genetic factors that modify the small amounts of fetal haemaglobin that are produced In normal adults.
    • (2000) Blood , vol.95 , pp. 342-346
    • Garner, C.1
  • 44
    • 0346497365 scopus 로고
    • γ-globin gene expression and high Hb F levels in β-thalassemia and sickle cell anemia patients
    • γ-globin gene expression and high Hb F levels in β-thalassemia and sickle cell anemia patients. Proc. Natl Acad. Sci. USA 82, 2111-2114 (1965).
    • (1965) Proc. Natl Acad. Sci. USA , vol.82 , pp. 2111-2114
    • Labie, D.1
  • 45
    • 0023158314 scopus 로고
    • Association of thalassaemia intermedia with a β-globin gene haplotype
    • Thein, S. L. et al. Association of thalassaemia intermedia with a β-globin gene haplotype. Br. J. Haematol. 65, 370-373 (1987).
    • (1987) Br. J. Haematol. , vol.65 , pp. 370-373
    • Thein, S.L.1
  • 48
    • 0030065604 scopus 로고    scopus 로고
    • Haemoglobin switch: Dissecting the loci controlling fetal haemoglobin production on chromosomes 11 p and 6q by the regressive approach
    • Craig, J. E. et al. Haemoglobin switch: dissecting the loci controlling fetal haemoglobin production on chromosomes 11 p and 6q by the regressive approach. Nature Genet. 12, 58-64 (1996). A model approach to dissecting the loci that modify fetal haemaglobin production in the haemoglobin disorders.
    • (1996) Nature Genet. , vol.12 , pp. 58-64
    • Craig, J.E.1
  • 49
    • 0030910834 scopus 로고    scopus 로고
    • Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin
    • Craig, J. E. et al. Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin. Blood 90, 428-434 (1997).
    • (1997) Blood , vol.90 , pp. 428-434
    • Craig, J.E.1
  • 50
    • 0026708201 scopus 로고
    • Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2
    • Dover, G. J. et al. Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood 80, 816-824 (1992).
    • (1992) Blood , vol.80 , pp. 816-824
    • Dover, G.J.1
  • 52
    • 0039276808 scopus 로고
    • Triplicated α-globin loci in humans'
    • Goossens, M. et al. Triplicated α-globin loci in humans'. Proc. Natl Acad. Sci. USA 77, 518-521 (1980).
    • (1980) Proc. Natl Acad. Sci. USA , vol.77 , pp. 518-521
    • Goossens, M.1
  • 54
    • 0021067375 scopus 로고
    • A family with segregating triplicated α globin loci and β thalassemia
    • Galanello, R. et al. A family with segregating triplicated α globin loci and β thalassemia. Blood 62, 1035-1040 (1983).
    • (1983) Blood , vol.62 , pp. 1035-1040
    • Galanello, R.1
  • 55
    • 0024511691 scopus 로고
    • The interaction of anti 3.7 type quadruplicated α-globin genes and heterozygous β-thalassemia
    • Thompson, C. C., Ali, M. A. & Vacovsky, M. The interaction of anti 3.7 type quadruplicated α-globin genes and heterozygous β-thalassemia. Hemoglobin 13, 125-135 (1989).
    • (1989) Hemoglobin , vol.13 , pp. 125-135
    • Thompson, C.C.1    Ali, M.A.2    Vacovsky, M.3
  • 56
    • 0032989373 scopus 로고    scopus 로고
    • ○-thalassaemia and quadruplicated α-globin gene arrangement of the anti-4.2 type
    • ○-thalassaemia and quadruplicated α-globin gene arrangement of the anti-4.2 type. Br. J. Haematol. 105, 1074-1080 (1999).
    • (1999) Br. J. Haematol. , vol.105 , pp. 1074-1080
    • Beris, P.1
  • 57
    • 0030698230 scopus 로고    scopus 로고
    • Hyperbilirubinaemia in heterozygous β-thalassaemia is related to co-inherited Gilbert's syndrome
    • Galanello, R. et al. Hyperbilirubinaemia in heterozygous β-thalassaemia is related to co-inherited Gilbert's syndrome. Br. J. Haematol. 99, 433-436 (1997).
    • (1997) Br. J. Haematol. , vol.99 , pp. 433-436
    • Galanello, R.1
  • 58
    • 0030663191 scopus 로고    scopus 로고
    • The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous β-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency
    • Sampietro, M. et al. The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous β-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency. Br. J. Haematol. 99, 437-439 (1997).
    • (1997) Br. J. Haematol. , vol.99 , pp. 437-439
    • Sampietro, M.1
  • 59
    • 0031849493 scopus 로고    scopus 로고
    • Nontransfusional iron overload in thalassemia: Association with hereditary hemochromatosis
    • Rees, D. C., Singh, B. M., Luo, L. Y., Wickramasinghe, S. & Thein, S. L. Nontransfusional iron overload in thalassemia: association with hereditary hemochromatosis. Ann. NY Acad. Sci. 850, 490-494 (1998).
    • (1998) Ann. NY Acad. Sci. , vol.850 , pp. 490-494
    • Rees, D.C.1    Singh, B.M.2    Luo, L.Y.3    Wickramasinghe, S.4    Thein, S.L.5
  • 60
    • 0034493507 scopus 로고    scopus 로고
    • Haemochromatosis in patients with β-thalassaemia trait
    • Piperno, A. et al. Haemochromatosis in patients with β-thalassaemia trait Br. J. Haematol. 111, 908-914 (2000).
    • (2000) Br. J. Haematol. , vol.111 , pp. 908-914
    • Piperno, A.1
  • 62
    • 0034572933 scopus 로고    scopus 로고
    • Iron homeostasis: Insights from genetics and animal models
    • Andrews, N. C. Iron homeostasis: insights from genetics and animal models. Nature Rev. Genet. 1, 208-217 (2000). An extensive review of new insights into iron homeostasis that discusses the many gene candidates for modifiers of iron loading.
    • (2000) Nature Rev. Genet. , vol.1 , pp. 208-217
    • Andrews, N.C.1
  • 63
    • 0003208593 scopus 로고    scopus 로고
    • Genetic influences on bone disease in thalassemia
    • Rees, D. C. et al. Genetic influences on bone disease in thalassemia. Blood 92, S532a (1998).
    • (1998) Blood , vol.92
    • Rees, D.C.1
  • 64
    • 0032411621 scopus 로고    scopus 로고
    • Annotation: Bone disease in β-thalassaemia major
    • Wonke, B. Annotation: bone disease in β-thalassaemia major. Br. J. Haematol. 103, 897-901 (1998). An up-to-date outline of the acquired and potential genetic factors that might modify osteoporosis in β-thalassaemia.
    • (1998) Br. J. Haematol. , vol.103 , pp. 897-901
    • Wonke, B.1
  • 65
    • 0034531861 scopus 로고    scopus 로고
    • Osteoporosis in β thalassaemia major patients: Analysis of the genetic background
    • Perrota, S. et al. Osteoporosis in β thalassaemia major patients: analysis of the genetic background. Br. J. Haematol. 111, 461-456 (2000).
    • (2000) Br. J. Haematol. , vol.111 , pp. 461-1456
    • Perrota, S.1
  • 67
    • 0029858255 scopus 로고    scopus 로고
    • High incidence of malaria in α-thalassaemic children
    • Williams, T. N. et al. High incidence of malaria in α-thalassaemic children. Nature 383, 522-525 (1996).
    • (1996) Nature , vol.383 , pp. 522-525
    • Williams, T.N.1
  • 68
    • 0031474610 scopus 로고    scopus 로고
    • +-thalassaemia protects children against disease due to malaria and other infections
    • +-thalassaemia protects children against disease due to malaria and other infections. Proc. Natl Acad. Sci. USA 94, 14736-14741 (1997).
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 14736-14741
    • Allen, S.J.1
  • 69
    • 0030663851 scopus 로고    scopus 로고
    • The role of genomics in studying genetic susceptibility to infectious disease
    • Weatherall, D. J., Clegg, J. B. & Kwiatkowski, D. The role of genomics in studying genetic susceptibility to infectious disease. Genome Res. 7, 967-973 (1997). An extensive review of the malaria-related genetic polymorphisms and polymorphisms that alter susceptibility to other infectious agents.
    • (1997) Genome Res. , vol.7 , pp. 967-973
    • Weatherall, D.J.1    Clegg, J.B.2    Kwiatkowski, D.3
  • 70
    • 0025913521 scopus 로고
    • Common west African HLA antigens are associated with protection from severe malaria
    • Hill, A. V. S., Allsopp, C. E. M. & Kwiatkowski, D. Common west African HLA antigens are associated with protection from severe malaria. Nature 352, 595-600 (1991).
    • (1991) Nature , vol.352 , pp. 595-600
    • Hill, A.V.S.1    Allsopp, C.E.M.2    Kwiatkowski, D.3
  • 71
    • 0028169333 scopus 로고
    • Variation in the TNF-α promoter region associated with susceptibility to cerebral malaria
    • McGuire, W., Hill, A. V. S., Allsopp, C. E. M., Greenwood, B. M. & Kwiatkowski, D. Variation in the TNF-α promoter region associated with susceptibility to cerebral malaria. Nature 371, 500-511 (1994).
    • (1994) Nature , vol.371 , pp. 500-511
    • McGuire, W.1    Hill, A.V.S.2    Allsopp, C.E.M.3    Greenwood, B.M.4    Kwiatkowski, D.5
  • 72
    • 0030791375 scopus 로고    scopus 로고
    • A high frequency African coding polymorphism in the N-terminal domain of ICAM-1 predisposing to cerebral malaria in Kenya
    • Fernandez-Reyes, D. et al. A high frequency African coding polymorphism in the N-terminal domain of ICAM-1 predisposing to cerebral malaria in Kenya. Hum. Mol. Genet. 6, 1357-1360 (1997).
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1357-1360
    • Fernandez-Reyes, D.1
  • 73
    • 0031822090 scopus 로고    scopus 로고
    • Thalassemia in the next millennium
    • Weatherall, D. J. Thalassemia in the next millennium. Ann. NY Acad. Sci. 850, 1-9 (1998).
    • (1998) Ann. NY Acad. Sci. , vol.850 , pp. 1-9
    • Weatherall, D.J.1
  • 74
    • 0031850087 scopus 로고    scopus 로고
    • Hemoglobin E/β thalassemia: The Canadian experience
    • Fouladi, M. et al. Hemoglobin E/β thalassemia: the Canadian experience. Ann. NY Acad. Sci. 850, 410-411 (1998).
    • (1998) Ann. NY Acad. Sci. , vol.850 , pp. 410-411
    • Fouladi, M.1
  • 75
    • 0032530271 scopus 로고    scopus 로고
    • Is hemoglobin instability important in the interaction between hemoglobin e and β thalassemia?
    • Rees, D. C., Clegg, J. B. & Weatherall, D. J. Is hemoglobin instability important in the interaction between hemoglobin E and β thalassemia? Blood 92, 2141-2146 (1998).
    • (1998) Blood , vol.92 , pp. 2141-2146
    • Rees, D.C.1    Clegg, J.B.2    Weatherall, D.J.3
  • 76
    • 0028214719 scopus 로고
    • Effect of pyrexia in the formation of intraerythrocytic inclusion bodies and vacuoles in haemolytic crisis of haemoglobin H disease
    • Chinprasertsuk, S., Wanachiwanawin, W. & Piankijagum, A. Effect of pyrexia in the formation of intraerythrocytic inclusion bodies and vacuoles in haemolytic crisis of haemoglobin H disease. Eur. J. Haematol. 52, 87-91 (1994).
    • (1994) Eur. J. Haematol. , vol.52 , pp. 87-91
    • Chinprasertsuk, S.1    Wanachiwanawin, W.2    Piankijagum, A.3
  • 77
    • 0033616127 scopus 로고    scopus 로고
    • From genotype to phenotype: Genetics and medical practice in the new millennium
    • Weatherall, D. J. From genotype to phenotype: genetics and medical practice in the new millennium. Phil. Trans. R. Soc. Lond. B 354, 1995-2010 (1999). An extensive review of phenotype-genotype relationships in monogenic disease, including those other than the haemoglobin disorders.
    • (1999) Phil. Trans. R. Soc. Lond. B , vol.354 , pp. 1995-2010
    • Weatherall, D.J.1
  • 78
    • 0029937671 scopus 로고    scopus 로고
    • Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases
    • Summers, K. M. Relationship between genotype and phenotype in monogenic diseases: relevance to polygenic diseases. Hum. Mutat. 7, 283-293 (1996).
    • (1996) Hum. Mutat. , vol.7 , pp. 283-293
    • Summers, K.M.1
  • 79
    • 0030882941 scopus 로고    scopus 로고
    • Identical mutations and phenotypic variation
    • Wolf, U. Identical mutations and phenotypic variation. Hum. Genet. 100, 305-321 (1997). A valuable review of the phenotype-genotype relationships for monogenic disease.
    • (1997) Hum. Genet. , vol.100 , pp. 305-321
    • Wolf, U.1
  • 80
    • 0030853711 scopus 로고    scopus 로고
    • Pathogenesis and treatment of sickle cell disease
    • Bunn, H. F. Pathogenesis and treatment of sickle cell disease. N. Engl. J. Med. 337, 762-769 (1997).
    • (1997) N. Engl. J. Med. , vol.337 , pp. 762-769
    • Bunn, H.F.1
  • 81
    • 0032563935 scopus 로고    scopus 로고
    • Gene therapy: Repairing haemoglobin disorders with ribozymes
    • Weatherall, D. J. Gene therapy: repairing haemoglobin disorders with ribozymes. Curr. Biol. 8, R696-R698 (1998).
    • (1998) Curr. Biol. , vol.8
    • Weatherall, D.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.