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Volumn 34, Issue 4, 2010, Pages 402-405

Hb Koya Dora [α142, Term→Ser (TAA>TCA in α2)]: A rare mutation of the α2 gene stop codon associated with α-Thalassemia

Author keywords

Thalassemia ( thal); Hb Koya Dora; Hemoglobin (Hb) mutation; Mass spectrometry (MS)

Indexed keywords

HEMOGLOBIN A2; HEMOGLOBIN KOYA DORA; HEMOGLOBIN VARIANT; SERINE; UNCLASSIFIED DRUG;

EID: 77954843771     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2010.486344     Document Type: Article
Times cited : (5)

References (6)
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    • (1975) Am J Hum Genet , vol.27 , Issue.1 , pp. 81-90
    • De Jong, W.W.1    Khan, P.M.2    Bernini, L.F.3
  • 2
    • 0023753802 scopus 로고
    • + thalassemia in two tribal populations from Andhra Pradesh India
    • + thalassemia in two tribal populations from Andhra Pradesh, India. Hum Genet. 1988;80(2):157-160.
    • (1988) Hum Genet , vol.80 , Issue.2 , pp. 157-160
    • Fodde, R.1    Losekoot, M.2    Van Den Broek, M.H.3
  • 3
    • 0036190154 scopus 로고    scopus 로고
    • HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
    • Hardison RC, Chui DHK, Giardine B, et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225-233 (http:// globin.bx.cse.psu.edu/hbvar).
    • (2002) Hum Mutat , vol.19 , Issue.3 , pp. 225-233
    • Hardison, R.C.1    Dhk, C.2    Giardine, B.3
  • 4
    • 0347125141 scopus 로고    scopus 로고
    • Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
    • Database issue
    • Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(Database issue):D537-D541 (http://globin.bx.cse.psu.edu/hbvar).
    • (2004) Nucleic Acids Res , vol.32
    • Patrinos, G.P.1    Giardine, B.2    Riemer, C.3
  • 5
    • 0030861944 scopus 로고    scopus 로고
    • Hb Auckland [α87(F8)His→Asn]: A new mutation of the proximal histidine identified by electrospray mass spectrometry
    • Brennan SO, Mathews JRD. Hb Auckland [α87(F8)His→Asn]: a new mutation of the proximal histidine identified by electrospray mass spectrometry. Hemoglobin. 1997;21(5):393-403.
    • (1997) Hemoglobin , vol.21 , Issue.5 , pp. 393-403
    • Brennan, S.O.1    Jrd, M.2
  • 6
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    • Novel hemoglobin αchain elongation resulting from a 15-residue insertion and tandem duplication of the F helix
    • Brennan SO, Owen MC, Chan T, Ruscova A. Novel hemoglobin αchain elongation resulting from a 15-residue insertion and tandem duplication of the F helix. Clin Biochem. 2008;41(14-15):1156-1161.
    • (2008) Clin Biochem , vol.41 , Issue.14-15 , pp. 1156-1161
    • Brennan, S.O.1    Owen, M.C.2    Chan, T.3    Ruscova, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.