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Volumn 20, Issue 5, 2002, Pages 358-367

Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features

Author keywords

Beta thalassemia prevention; Delta globin; Delta thalassemia; Gene modifiers; Genotype phenotype; HBD; Mutation detection

Indexed keywords

DELTA GLOBIN; HEMOGLOBIN A2;

EID: 0036409980     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10132     Document Type: Article
Times cited : (27)

References (43)
  • 1
    • 0013904302 scopus 로고
    • Hemoglobin A′2 abnormality associated with thalassemia minor in a Greek woman. Study of a family
    • Aksoy M, Erdem S. 1966. Hemoglobin A′2 abnormality associated with thalassemia minor in a Greek woman. Study of a family. Isr J Med Sci 2:310-313.
    • (1966) Isr J Med Sci , vol.2 , pp. 310-313
    • Aksoy, M.1    Erdem, S.2
  • 3
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations
    • Antonarakis SE, Nomenclature Working Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1-3.
    • (1998) Hum Mutat , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 6
    • 0026691572 scopus 로고
    • A PCR-based strategy to detect the common severe determinants of α thalassaemia
    • Bowden DK, Vickers MA, Higgs DR. 1992. A PCR-based strategy to detect the common severe determinants of α thalassaemia. Br J Haematol 81:104-108.
    • (1992) Br J Haematol , vol.81 , pp. 104-108
    • Bowden, D.K.1    Vickers, M.A.2    Higgs, D.R.3
  • 11
    • 0016138582 scopus 로고
    • 2-NYU in the Netherlands. Incidence of δ-chain variants in human populations
    • 2-NYU in the Netherlands. Incidence of δ-chain variants in human populations. Hum Hered 24:32-39.
    • (1974) Hum Hered , vol.24 , pp. 32-39
    • De Jong, W.W.1    Went, L.N.2
  • 13
    • 0030908411 scopus 로고    scopus 로고
    • δ-thalassemic phenotype due to two "novel" δ-globin gene mutations: (CD11 GTC>GGC(A8)-HbA2-Pylos) and (CD85 TTT>TCT(F1)-HbA2-Etolia)
    • Drakoulakou O, Papapanagiotou E, Loutradi-Anagnostou A, Papadakis M. 1997. δ-thalassemic phenotype due to two "novel" δ-globin gene mutations: (CD11 GTC>GGC(A8)-HbA2-Pylos) and (CD85 TTT>TCT(F1)-HbA2-Etolia). Hum Mutat 9:344-347.
    • (1997) Hum Mutat , vol.9 , pp. 344-347
    • Drakoulakou, O.1    Papapanagiotou, E.2    Loutradi-Anagnostou, A.3    Papadakis, M.4
  • 15
    • 0027938162 scopus 로고
    • HpaI, HindIII, and BamHI polymorphisms 3′ of the human β-globin gene can bedetected by a single polymerase chain reaction amplification product
    • Fullerton SM, Clegg JB. 1994. HpaI, HindIII, and BamHI polymorphisms 3′ of the human β-globin gene can bedetected by a single polymerase chain reaction amplification product. Am J Hematol 47:256.
    • (1994) Am J Hematol , vol.47 , pp. 256
    • Fullerton, S.M.1    Clegg, J.B.2
  • 16
  • 20
    • 0032020108 scopus 로고    scopus 로고
    • The β- and δ-thalassemia repository. 9th ed., part I
    • Huisman TH, Carver MF. 1998. The β- and δ-thalassemia repository. 9th ed., part I. Hemoglobin 22:169-195.
    • (1998) Hemoglobin , vol.22 , pp. 169-195
    • Huisman, T.H.1    Carver, M.F.2
  • 21
    • 0027731075 scopus 로고
    • A novel β-thalassemia mutation IVS-II-5 (G>C) in a Chinese family from Guangxi Province, P.R. China
    • Jiang NH, Liang S, Su C, Nechtman JF, Stoming, TA. 1993. A novel β-thalassemia mutation IVS-II-5 (G>C) in a Chinese family from Guangxi Province, P.R. China. Hemoglobin 17:563-567.
    • (1993) Hemoglobin , vol.17 , pp. 563-567
    • Jiang, N.H.1    Liang, S.2    Su, C.3    Nechtman, J.F.4    Stoming, T.A.5
  • 22
    • 0024211404 scopus 로고
    • Rapid and non-radioactive prenatal diagnosis of β thalassaemia and sickle cell disease: Application of the polymerase chain reaction PCR
    • Kulozik AE, Lyons J, Kohne E, Bartram CR, Kleihauer E. 1988. Rapid and non-radioactive prenatal diagnosis of β thalassaemia and sickle cell disease: Application of the polymerase chain reaction PCR. Br J Haematol 70:455-458.
    • (1988) Br J Haematol , vol.70 , pp. 455-458
    • Kulozik, A.E.1    Lyons, J.2    Kohne, E.3    Bartram, C.R.4    Kleihauer, E.5
  • 24
    • 0026699172 scopus 로고
    • 6-Thalassemia caused by disruption of the site for an erythroid-specific transcription factor, GATA-1, in the 6-globin gene promoter
    • Matsuda M, Sakamoto N, Fukumaki Y. 1992. 6-Thalassemia caused by disruption of the site for an erythroid-specific transcription factor, GATA-1, in the 6-globin gene promoter. Blood 80:1347-1351.
    • (1992) Blood , vol.80 , pp. 1347-1351
    • Matsuda, M.1    Sakamoto, N.2    Fukumaki, Y.3
  • 27
    • 0025090944 scopus 로고
    • Rapid detection and prenatal diagnosis of β-thalassaemia: Studies in Indian and Cypriot populations in the UK
    • Old JM, Varawalla NY, Weatherall DJ. 1990. Rapid detection and prenatal diagnosis of β-thalassaemia: Studies in Indian and Cypriot populations in the UK. Lancet 336:834-837.
    • (1990) Lancet , vol.336 , pp. 834-837
    • Old, J.M.1    Varawalla, N.Y.2    Weatherall, D.J.3
  • 35
    • 0027495449 scopus 로고
    • Incorrect genetic counseling of a couple with β-thalassemia, due to incomplete testing
    • Ribeiro ML, Gu LH, Buchanan-Adair I, Huisman TH. 1993. Incorrect genetic counseling of a couple with β-thalassemia, due to incomplete testing. Am J Hum Genet 52:842-843.
    • (1993) Am J Hum Genet , vol.52 , pp. 842-843
    • Ribeiro, M.L.1    Gu, L.H.2    Buchanan-Adair, I.3    Huisman, T.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.