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Volumn 209, Issue 4, 1997, Pages 172-177

β-thalassaemia in Germany: Molecular genetics and clinical phenotype in the immigrant and in the non-immigrant populations;β-thalassamie in Deutschland: Molekulargenetik und klinischer phanotyp in der zugewanderten und in der heimischen bevolkerung

Author keywords

Genotype; Phenotype correlation; globin mutations; thalassaemia

Indexed keywords

ARTICLE; BETA THALASSEMIA; DISEASE CLASSIFICATION; GENE MUTATION; GENOTYPE; GERMANY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMIGRANT; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; PHENOTYPE; ADOLESCENT; ADULT; CHILD; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE FREQUENCY; GENETICS; HETEROZYGOTE DETECTION; HOMOZYGOTE; INFANT; MALE; MIGRATION; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRESCHOOL CHILD;

EID: 0030752351     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1043946     Document Type: Article
Times cited : (4)

References (40)
  • 1
    • 0025563407 scopus 로고
    • β-Thalassemia intermedia in Turkey
    • Altay, C. A. Gurgev: β-Thalassemia intermedia in Turkey. Ann. N. Y. Acad. Sci. 612 (1990) 81-89
    • (1990) Ann. N. Y. Acad. Sci. , vol.612 , pp. 81-89
    • Altay, C.1    Gurgev, A.2
  • 2
    • 0023698235 scopus 로고
    • Molecular characterization of β-globin gene mutations in patients with β-thalassaemia intermedia in South China
    • Antonarakis, S. E., J. Kang, V. M. S. Lam, J. W. O. Tam, A. M. C. Li: Molecular characterization of β-globin gene mutations in patients with β-thalassaemia intermedia in South China. Br. J. Haematol. 70 (1988) 357-361
    • (1988) Br. J. Haematol. , vol.70 , pp. 357-361
    • Antonarakis, S.E.1    Kang, J.2    Lam, V.M.S.3    Tam, J.W.O.4    Li, A.M.C.5
  • 4
    • 0344171148 scopus 로고
    • Hämoglobinanomalien in der deutschen Bevölkerung
    • Betke, K., E. Kleihauer: Hämoglobinanomalien in der deutschen Bevölkerung. Schweiz. Med. Wschr. 92 (1962) 1316-1318
    • (1962) Schweiz. Med. Wschr. , vol.92 , pp. 1316-1318
    • Betke, K.1    Kleihauer, E.2
  • 6
    • 0024601868 scopus 로고
    • Mutation analysis of β-thalassemia genes in a German family reveals a rare transversion in the first intron
    • Eigel, A., J. Schnee, R. Oehme, J. Horst: Mutation analysis of β-thalassemia genes in a German family reveals a rare transversion in the first intron. Human Genetics 81 (1989) 371-372
    • (1989) Human Genetics , vol.81 , pp. 371-372
    • Eigel, A.1    Schnee, J.2    Oehme, R.3    Horst, J.4
  • 7
  • 9
    • 8244262255 scopus 로고
    • Thalassaemia major in Deutschland
    • Flatz, G., H. Hauke, E. Kleihauer: Thalassaemia major in Deutschland. Klin. Wschr. 42 (1964) 850-852
    • (1964) Klin. Wschr. , vol.42 , pp. 850-852
    • Flatz, G.1    Hauke, H.2    Kleihauer, E.3
  • 11
    • 8244228171 scopus 로고
    • Erythroblastenanämie Typ Cooley bei einem deutschen Kind
    • Graser, E.: Erythroblastenanämie Typ Cooley bei einem deutschen Kind. Z. Kinderheilk. 62 (1941) 698-713
    • (1941) Z. Kinderheilk. , vol.62 , pp. 698-713
    • Graser, E.1
  • 13
    • 0026443778 scopus 로고
    • β-Thalassaemia in the indigenous British population
    • Hall, G. W., R. A. Barnetson, S. L. Thein: β-Thalassaemia in the indigenous British population. Br. J. Haematol. 82 (1992) 584-588
    • (1992) Br. J. Haematol. , vol.82 , pp. 584-588
    • Hall, G.W.1    Barnetson, R.A.2    Thein, S.L.3
  • 14
    • 0028344092 scopus 로고
    • Nonsense codon mutations in the terminal exon of the β-glohin gene are not associated with a reduction in β- MRNA accumulation: A mechanism for the phenotype of dominant β-thalassemia
    • Hall, G. W., S. L. Thein: Nonsense codon mutations in the terminal exon of the β-glohin gene are not associated with a reduction in β- mRNA accumulation: a mechanism for the phenotype of dominant β-thalassemia. Blood 83 (1994) 2031-2037
    • (1994) Blood , vol.83 , pp. 2031-2037
    • Hall, G.W.1    Thein, S.L.2
  • 17
    • 0026704542 scopus 로고
    • Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the β-globin gene
    • Kazazian, H. H., C. E. Dowling, R. L. Hurwitz, M. Coleman, A. Stopeck, J. G. Adams III: Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the β-globin gene. Blood 79 (1992) 3014-3018
    • (1992) Blood , vol.79 , pp. 3014-3018
    • Kazazian, H.H.1    Dowling, C.E.2    Hurwitz, R.L.3    Coleman, M.4    Stopeck, A.5    Adams III, J.G.6
  • 19
    • 0016287551 scopus 로고
    • Häufigkeit und Formen von anomalen Hämoglobinen und Thalassämie-Syndromen in der deutschen Bevölkerung
    • Kuhne, E., E. Kleihauer: Häufigkeit und Formen von anomalen Hämoglobinen und Thalassämie-Syndromen in der deutschen Bevölkerung. Klin. Wschr. 52 (1974) l003-1010
    • (1974) Klin. Wschr. , vol.52
    • Kuhne, E.1    Kleihauer, E.2
  • 20
    • 0028941794 scopus 로고
    • Nuclear degradation of nonsense mutated β-globin mRNA: A post-transcriptional mechanism to protect heterozygotes from severe clinical manifestations of β-thalassemia?
    • Kugler, W., J. Enssle, M. W. Hentze, A. E. Kulozik: Nuclear degradation of nonsense mutated β-globin mRNA: a post-transcriptional mechanism to protect heterozygotes from severe clinical manifestations of β-thalassemia? Nucl. Acids Res. 23 (1995) 413-418
    • (1995) Nucl. Acids Res. , vol.23 , pp. 413-418
    • Kugler, W.1    Enssle, J.2    Hentze, M.W.3    Kulozik, A.E.4
  • 22
    • 0025856712 scopus 로고
    • Thalassemia intermedia: Moderate reduction of β globin gene transcriptional activity by a novel mutation of the proximal CACCC promotor element
    • Kulozik, A. E., A. Bellan-Koch, S. Bail, F. Kohne, E. Kleihauer: Thalassemia intermedia: moderate reduction of β globin gene transcriptional activity by a novel mutation of the proximal CACCC promotor element. Blood 77 (1991) 2054-2058
    • (1991) Blood , vol.77 , pp. 2054-2058
    • Kulozik, A.E.1    Bellan-Koch, A.2    Bail, S.3    Kohne, F.4    Kleihauer, E.5
  • 25
    • 0025298245 scopus 로고
    • Mediterranean types of β-thalassemia in the German population
    • J5 Laig, M., M. Pape. J. Hundrieser, G. Flatz: Mediterranean types of β-thalassemia in the German population. Hum. Genet. 85 (1990) 135-137
    • (1990) Hum. Genet. , vol.85 , pp. 135-137
    • Laig, M.1    Pape, M.2    Hundrieser, J.3    Flatz, G.4
  • 26
    • 0025762515 scopus 로고
    • Molecular characterization of β-thalassemia intermedia in patients of Italian descent and identification of three novel β-thalassemia mutations
    • Murru, S., G. Loudianos, M. Deiana, C. Camaschella, G. V. Sciarratta, S. Agosti, M. I. Parodi, P. Ceruti, A. Cao, M. Pirastu: Molecular characterization of β-thalassemia intermedia in patients of Italian descent and identification of three novel β-thalassemia mutations. Blood 77 (1991) 1342-1347
    • (1991) Blood , vol.77 , pp. 1342-1347
    • Murru, S.1    Loudianos, G.2    Deiana, M.3    Camaschella, C.4    Sciarratta, G.V.5    Agosti, S.6    Parodi, M.I.7    Ceruti, P.8    Cao, A.9    Pirastu, M.10
  • 29
    • 0019949838 scopus 로고
    • Linage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster
    • Orkin, S. H., H. H. Kazazian, S. E. Antonarakis, S. C. Goff, C. D. Boehm, J. P. Sexton, P. G. Waber, P. J. V. Giardina: Linage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 296 (1982) 627-631
    • (1982) Nature , vol.296 , pp. 627-631
    • Orkin, S.H.1    Kazazian, H.H.2    Antonarakis, S.E.3    Goff, S.C.4    Boehm, C.D.5    Sexton, J.P.6    Waber, P.G.7    Giardina, P.J.V.8
  • 31
    • 0021011759 scopus 로고
    • The triplicated alpha-gene locus and heterozygous beta thalassaemia: A case of thalassaemia intermedia
    • Sampietro, M., M. Cazzola, M. D. Cappelini, G. Fiorelli:The triplicated alpha-gene locus and heterozygous beta thalassaemia: a case of thalassaemia intermedia. Br. J. Haematol. 55 (1983) 709-710
    • (1983) Br. J. Haematol. , vol.55 , pp. 709-710
    • Sampietro, M.1    Cazzola, M.2    Cappelini, M.D.3    Fiorelli, G.4
  • 32
    • 0024829759 scopus 로고
    • Direct mutation analysis of β-thalassemia genes in families of various ethnic origins residing in Germany
    • Schnee, J., A. Eigel, J. Horst: Direct mutation analysis of β-thalassemia genes in families of various ethnic origins residing in Germany. Blut 59 (1989)237-239
    • (1989) Blut , vol.59 , pp. 237-239
    • Schnee, J.1    Eigel, A.2    Horst, J.3
  • 34
    • 8244262254 scopus 로고
    • Homozygote β-Thalassämie (COOLEYAnämie) in einer deutschen Familie
    • Teichgräber, L., E. Kleihauer: Homozygote β-Thalassämie (COOLEYAnämie) in einer deutschen Familie. Folia Haematol. 92 (1968) 206-214
    • (1968) Folia Haematol. , vol.92 , pp. 206-214
    • Teichgräber, L.1    Kleihauer, E.2
  • 37
    • 0025993003 scopus 로고
    • A simple and rapid method of direct sequencing using Dynabeads
    • Thein, S. L., J. Hinton: A simple and rapid method of direct sequencing using Dynabeads. Br. J. Haematol. 79 (1991) 113-115
    • (1991) Br. J. Haematol. , vol.79 , pp. 113-115
    • Thein, S.L.1    Hinton, J.2
  • 38
    • 0023741186 scopus 로고
    • The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: Application to prenatal diagnosis
    • Thein, S. L., C. Hesketh, R. B. Walace, D. J. Weatherall: The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis. Br. J. Haematol. 70 (1988) 225-231
    • (1988) Br. J. Haematol. , vol.70 , pp. 225-231
    • Thein, S.L.1    Hesketh, C.2    Walace, R.B.3    Weatherall, D.J.4
  • 39
    • 0031010067 scopus 로고    scopus 로고
    • β-Thalassaemia in the immigrant and in the non-immigrant German populations
    • Vetter, B., C. Schwarz, E. Kohne, A. E. Kulozik: β-Thalassaemia in the immigrant and in the non-immigrant German populations. Br. J. Haematol. 97 (1997) 266-272
    • (1997) Br. J. Haematol. , vol.97 , pp. 266-272
    • Vetter, B.1    Schwarz, C.2    Kohne, E.3    Kulozik, A.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.