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Volumn 104, Issue 5, 2010, Pages 1076-1077

Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis

Author keywords

[No Author keywords available]

Indexed keywords

CONSANGUINITY; DNA ISOLATION; DNA SPLICING; EARLY DIAGNOSIS; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE MUTATION; GENOTYPE; GLANZMANN DISEASE; HOMOZYGOSITY; HUMAN; LETTER; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 78149488259     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH10-05-0268     Document Type: Letter
Times cited : (12)

References (10)
  • 1
    • 34247896877 scopus 로고    scopus 로고
    • Glanzmann thrombasthenia
    • Nurden AT. Glanzmann thrombasthenia. Orphanet J Rare Dis 2006; 1: 1-8.
    • (2006) Orphanet J Rare Dis , vol.1 , pp. 1-8
    • Nurden, A.T.1
  • 2
    • 0026356066 scopus 로고
    • The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel
    • Newman PJ, Seligsohn U, Lyman S, Coller BS. The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proc Natl Acad Sci USA 1991; 88: 3160-3164.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 3160-3164
    • Newman, P.J.1    Seligsohn, U.2    Lyman, S.3    Coller, B.S.4
  • 3
    • 29244480006 scopus 로고    scopus 로고
    • A 13-bp deletion in αIIb gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia
    • Rosenberg N, Hauschner H, Peretz H, et al. A 13-bp deletion in αIIb gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia. J Thromb Haemost 2005; 3: 2764-2772.
    • (2005) J Thromb Haemost , vol.3 , pp. 2764-2772
    • Rosenberg, N.1    Hauschner, H.2    Peretz, H.3
  • 4
    • 0029154482 scopus 로고
    • The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: Identification of a new mutation on the αIIb gene
    • Schlegel N, Gayet O, Morel-Kopp M-C, et al. The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: Identification of a new mutation on the αIIb gene. Blood 1995; 86: 977-982.
    • (1995) Blood , vol.86 , pp. 977-982
    • Schlegel, N.1    Gayet, O.2    Morel-Kopp, M.-C.3
  • 5
    • 0642372604 scopus 로고    scopus 로고
    • Analysis of platelet membrane polymorphisms in Glanzmann's thrombasthenia showed the French gypsy mutation in the αIIb gene to be strongly linked to the HPA-1b polymorphism in β3
    • Jacquelin B, Tuleja E, Kunicki TJ, et al. Analysis of platelet membrane polymorphisms in Glanzmann's thrombasthenia showed the French gypsy mutation in the αIIb gene to be strongly linked to the HPA-1b polymorphism in β3. J Thromb Haemost 2003; 1: 573-575.
    • (2003) J Thromb Haemost , vol.1 , pp. 573-575
    • Jacquelin, B.1    Tuleja, E.2    Kunicki, T.J.3
  • 6
    • 69249216715 scopus 로고    scopus 로고
    • Genetic testing in the diagnostic evaluation of inherited platelet disorders
    • Nurden AT, Fiore M, Pillois X, et al. Genetic testing in the diagnostic evaluation of inherited platelet disorders. Semin Thromb Hemost 2009; 35: 204-212.
    • (2009) Semin Thromb Hemost , vol.35 , pp. 204-212
    • Nurden, A.T.1    Fiore, M.2    Pillois, X.3
  • 7
    • 77949430843 scopus 로고    scopus 로고
    • High-resolution DNA melting analysis in clinical research and diagnostics
    • Montgomery JL, Sanford LN, Wittwer CT. High-resolution DNA melting analysis in clinical research and diagnostics. Expert Rev Mol Diagn 2010; 10: 219-240.
    • (2010) Expert Rev Mol Diagn , vol.10 , pp. 219-240
    • Montgomery, J.L.1    Sanford, L.N.2    Wittwer, C.T.3
  • 8
    • 3242742969 scopus 로고    scopus 로고
    • Closed-tube genotyping with unlabeled oligonucleotide probes and a saturating DNA dye
    • Zhou L, Myers AN, Vandersteen JG, et al. Closed-tube genotyping with unlabeled oligonucleotide probes and a saturating DNA dye. Clin Chem 2004; 50: 1328-1335.
    • (2004) Clin Chem , vol.50 , pp. 1328-1335
    • Zhou, L.1    Myers, A.N.2    Vandersteen, J.G.3
  • 10
    • 48449087283 scopus 로고    scopus 로고
    • Rapid melting curve analysis for genetic variants that underlie inter-individual variability in stable warfarin dosing
    • Carlquist JF, McKinney JT, Nicholas ZP, et al. Rapid melting curve analysis for genetic variants that underlie inter-individual variability in stable warfarin dosing. J Thromb Thrombolysis 2008; 26: 1-7.
    • (2008) J Thromb Thrombolysis , vol.26 , pp. 1-7
    • Carlquist, J.F.1    McKinney, J.T.2    Nicholas, Z.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.