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Volumn 93, Issue 1, 2008, Pages 141-142

Hb Foggia or α117(GH5)Phe→Ser: A new α2 globin allele affecting the αHb-AHSP interaction

Author keywords

thalassemia; AHSP; Hb foggia; Microcytic anemias

Indexed keywords

ALPHA HEMOGLOBIN STABILIZING PROTEIN; ALPHA2 GLOBIN; HEMOGLOBIN ALPHA CHAIN; HEMOGLOBIN VARIANT; MESSENGER RNA; PHENYLALANINE; SERINE; UNCLASSIFIED DRUG;

EID: 38549144245     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.11789     Document Type: Article
Times cited : (22)

References (10)
  • 1
    • 8844285199 scopus 로고    scopus 로고
    • Molecular mechanism of AHSP-mediated stabilization of α-hemoglobin
    • Feng L, Gell DA, Zhou S, Gu L, Kong Y, Li J, et al. Molecular mechanism of AHSP-mediated stabilization of α-hemoglobin. Cell 2004;119:629-40.
    • (2004) Cell , vol.119 , pp. 629-640
    • Feng, L.1    Gell, D.A.2    Zhou, S.3    Gu, L.4    Kong, Y.5    Li, J.6
  • 2
    • 20444445134 scopus 로고    scopus 로고
    • Structure of oxidized α-haemoglobin bound to AHSP reveals a protective mechanism for haeme
    • Feng L, Zhou S, Gu L, Gell DA, Mackay JP, Weiss MJ, et al. Structure of oxidized α-haemoglobin bound to AHSP reveals a protective mechanism for haeme. Nature 2005;435:697-701.
    • (2005) Nature , vol.435 , pp. 697-701
    • Feng, L.1    Zhou, S.2    Gu, L.3    Gell, D.A.4    Mackay, J.P.5    Weiss, M.J.6
  • 3
    • 33750908580 scopus 로고    scopus 로고
    • Impaired binding of AHSP to α chain variants: Hb Groene Hart illustrates a mechanism leading to unstable hemoglobins with α thalassemic like syndrome
    • Vasseur-Godbillon C, Marden MC, Giordano P, Wajcman H, Baudin-Creuza V. Impaired binding of AHSP to α chain variants: Hb Groene Hart illustrates a mechanism leading to unstable hemoglobins with α thalassemic like syndrome. Blood Cells Mol Dis 2006;37:173-9.
    • (2006) Blood Cells Mol Dis , vol.37 , pp. 173-179
    • Vasseur-Godbillon, C.1    Marden, M.C.2    Giordano, P.3    Wajcman, H.4    Baudin-Creuza, V.5
  • 5
    • 0033983971 scopus 로고    scopus 로고
    • Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia
    • Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood 2000;95:360-2.
    • (2000) Blood , vol.95 , pp. 360-362
    • Chong, S.S.1    Boehm, C.D.2    Higgs, D.R.3    Cutting, G.R.4
  • 6
    • 33947517640 scopus 로고    scopus 로고
    • Genotyping for known Mediterranean α-thalassemia point mutations using a multiplex amplification refractory mutation system
    • Lacerra G, Musollino G, Di Noce F, Prezioso R, Carestia C. Genotyping for known Mediterranean α-thalassemia point mutations using a multiplex amplification refractory mutation system. Haematologica 2007;92:254-5.
    • (2007) Haematologica , vol.92 , pp. 254-255
    • Lacerra, G.1    Musollino, G.2    Di Noce, F.3    Prezioso, R.4    Carestia, C.5
  • 7
    • 5044231544 scopus 로고    scopus 로고
    • Sequence variations of the α-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE
    • Lacerra G, Fiorito M, Musollino G, Di Noce F, Esposito M, Nigro V, et al. Sequence variations of the α-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE. Hum Mutat 2004;24:338-49.
    • (2004) Hum Mutat , vol.24 , pp. 338-349
    • Lacerra, G.1    Fiorito, M.2    Musollino, G.3    Di Noce, F.4    Esposito, M.5    Nigro, V.6
  • 8
    • 0033846877 scopus 로고    scopus 로고
    • The mutation associated with Hb Peterborough [β111(G13)Val>Phe] originated from Southern Italy
    • Carbone V, Salzano AM, Pagnini D, Papa G, Libertino R, Pagano L, et al. The mutation associated with Hb Peterborough [β111(G13)Val>Phe] originated from Southern Italy. Hemoglobin 2000;24:227-37.
    • (2000) Hemoglobin , vol.24 , pp. 227-237
    • Carbone, V.1    Salzano, A.M.2    Pagnini, D.3    Papa, G.4    Libertino, R.5    Pagano, L.6
  • 9
    • 1642579695 scopus 로고    scopus 로고
    • β+45 G>C: A novel silent β-thalassaemia mutation, the first in the Kozak sequence
    • De Angioletti M, Lacerra G, Sabato V, Carestia C. β+45 G>C: a novel silent β-thalassaemia mutation, the first in the Kozak sequence. Br J Haematol 2004;124:224-31.
    • (2004) Br J Haematol , vol.124 , pp. 224-231
    • De Angioletti, M.1    Lacerra, G.2    Sabato, V.3    Carestia, C.4
  • 10
    • 0034082184 scopus 로고    scopus 로고
    • Two new variants with the same substitution at position β122: Hb Bushey [β122(GH5)Phe>Leu] and Hb Casablanca [β65(E9)Lys>Met; β122(GH5)Phe>Leu]
    • Wajcman H, Drupt F, Henthorn JS, Kister J, Prehu C, Riou J, et al. Two new variants with the same substitution at position β122: Hb Bushey [β122(GH5)Phe>Leu] and Hb Casablanca [β65(E9)Lys>Met; β122(GH5)Phe>Leu]. Hemoglobin 2000;24:125-32.
    • (2000) Hemoglobin , vol.24 , pp. 125-132
    • Wajcman, H.1    Drupt, F.2    Henthorn, J.S.3    Kister, J.4    Prehu, C.5    Riou, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.