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Volumn 102, Issue 7, 2003, Pages 2704-2705

Congenital dyserythropoietic anemia type II in human patients is not due to mutations in the erythroid anion exchanger 1 [8]

Author keywords

[No Author keywords available]

Indexed keywords

ANEMIA; CHROMOSOME 17; CHROMOSOME 17Q; CHROMOSOME 20Q; CHROMOSOME SEGREGATION; CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 2; DYSERYTHROPOIESIS; ERYTHROCYTE MEMBRANE; ERYTHROID ANION EXCHANGER 1 GENE; GENE; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GLYCOSYLATION; HEMOLYTIC ANEMIA; HEREDITARY SPHEROCYTOSIS; LETTER; LINKAGE ANALYSIS; MITOSIS SPINDLE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROCESSING; RETSINA GENE; ZEBRA FISH;

EID: 0141705291     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-07-2389     Document Type: Letter
Times cited : (6)

References (10)
  • 1
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  • 2
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    • Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genome-wide search
    • Gasparini P, Miraglia del Giudice E, Delaunay J, et al. Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genome-wide search. Am J Hum Genet. 1997;61:1112-1116.
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    • Gasparini, P.1    Miraglia del Giudice, E.2    Delaunay, J.3
  • 3
    • 0029821217 scopus 로고    scopus 로고
    • Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton
    • Southgate CD, Chishti AH, Mitchell B, Yi SJ, Palek J. Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton. Nat Genet. 1996;14:227-230.
    • (1996) Nat Genet , vol.14 , pp. 227-230
    • Southgate, C.D.1    Chishti, A.H.2    Mitchell, B.3    Yi, S.J.4    Palek, J.5
  • 4
    • 15844377239 scopus 로고    scopus 로고
    • Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation
    • Inaba M, Yawata A, Koshino I, et al. Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation. J Clin Invest. 1996;15;97:1804-1817.
    • (1996) J Clin Invest , vol.15 , Issue.97 , pp. 1804-1817
    • Inaba, M.1    Yawata, A.2    Koshino, I.3
  • 5
    • 0034663120 scopus 로고    scopus 로고
    • Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3
    • Ribeiro ML, Alloisio N,Almeida H, et al. Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood. 2000;96:1602-1604.
    • (2000) Blood , vol.96 , pp. 1602-1604
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  • 8
    • 0028064834 scopus 로고
    • Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis
    • Miraglia del Giudice E, Iolascon A, Pinto L, Nobili B, Perrotta S. Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis. Br J Haematol. 1994;88:52-55.
    • (1994) Br J Haematol , vol.88 , pp. 52-55
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  • 9
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    • Hereditary spherocytosis due to a novel frameshift mutation in AE1 cytoplasmic COOH terminal tail: Band 3 Vesuvio
    • Perrotta S, Polito F, Conte ML, et al. Hereditary spherocytosis due to a novel frameshift mutation in AE1 cytoplasmic COOH terminal tail: band 3 Vesuvio. Blood. 1999;93:2131-2132.
    • (1999) Blood , vol.93 , pp. 2131-2132
    • Perrotta, S.1    Polito, F.2    Conte, M.L.3
  • 10
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    • The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum
    • Alloisio N, Texier P, Denoroy L, et al. The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum. Blood. 1996;87:4433-4439.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.