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Volumn 13, Issue 5, 2009, Pages 573-576

Detection of New Deletions in a Group of Italian Patients with Hemophilia A by Multiplex Ligation-Dependent Probe Amplification

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; FEMALE; GENE DELETION; GENETICS; HEMOPHILIA A; HETEROZYGOTE DETECTION; HUMAN; ITALY; LIGASE CHAIN REACTION;

EID: 74049125006     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0015     Document Type: Article
Times cited : (8)

References (11)
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    • Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood
    • Bagnall RD, Waseem N, Green PM, Giannelli F (2002) Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 99:168–174.
    • (2002) , vol.99 , pp. 168-174
    • Bagnall, R.D.1    Waseem, N.2    Green, P.M.3    Giannelli, F.4
  • 3
    • 37249043142 scopus 로고    scopus 로고
    • Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplication
    • De Luca A, Bottillo I, Dasdia MC, et al. (2007) Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplication. J Med Genet 44:800–808.
    • (2007) J Med Genet , vol.44 , pp. 800-808
    • De Luca, A.1    Bottillo, I.2    Dasdia, M.C.3
  • 4
    • 28744446802 scopus 로고    scopus 로고
    • Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families
    • Hartmann C, John AL, Klaes R, et al. (2004) Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum Mutat 24:534.
    • (2004) Hum Mutat , vol.24 , pp. 534
    • Hartmann, C.1    John, A.L.2    Klaes, R.3
  • 7
    • 0031804517 scopus 로고    scopus 로고
    • The factor VIII structure and mutation resource site: HAMSTeRS version 4
    • Kemball-Cook G, Tuddenham EG, Wacey AI (1998) The factor VIII structure and mutation resource site: HAMSTeRS version 4. Nucleic Acids Res 26:216–219.
    • (1998) Nucleic Acids Res 26 , pp. 216-219
    • Kemball-Cook, G.1    Tuddenham, E.G.2    Wacey, A.I.3
  • 9
    • 43449104265 scopus 로고    scopus 로고
    • The Italian AICE-genetics hemophilia A database: results and correlation with clinical phenotype. Haematologica
    • Margaglione M, Castaman G, Morfini M, et al. (2008) The Italian AICE-genetics hemophilia A database: results and correlation with clinical phenotype. Haematologica 93:722–728.
    • (2008) , vol.93 , pp. 722-728
    • Margaglione, M.1    Castaman, G.2    Morfini, M.3
  • 10
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 11
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation dependent probe amplification
    • Schouten JP, McElgunn CJ, Waaijer R, et al. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation dependent probe amplification. Nucleic Acids Res 30:e57.
    • (2002) Nucleic Acids Res , vol.30 , pp. e57
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.