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Volumn 11, Issue SUPPL 1, 1998, Pages

Five Novel Factor IX Mutations in Unrelated Hemophilia B Patients

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 9; DNA; COMPLEMENTARY DNA;

EID: 21544459063     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110194     Document Type: Article
Times cited : (2)

References (10)
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    • (1996)
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  • 2
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    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroforme xtraction
    • Chomczynsk P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroforme xtraction. Anal Biochem 162:156169.
    • (1987) Anal Biochem , vol.162 , pp. 156169
    • Chomczynsk, P.1    Sacchi, N.2
  • 3
    • 84882573272 scopus 로고
    • S i e base-pair substitutions in humangene mRNAsplice junctions and theirphenotypiccomequences
    • In: Human gene mutations Oxford BIOS Scientific
    • Cooper DN, Krawuak M (1993) S i e base-pair substitutions in humangene mRNAsplice junctions and theirphenotypiccomequences. In: Human gene mutations Oxford BIOS Scientific, pp 234-260.
    • (1993) , pp. 234-260
    • Cooper, D.N.1    Krawuak, M.2
  • 4
    • 0027383826 scopus 로고
    • Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B
    • David D, Rosa HAV, Pemberton S, Diniz MJ, Campos M, Lavinha J (1993) Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B. Hum Mutat 2:355-361.
    • (1993) Hum Mutat , vol.2 , pp. 355-361
    • David, D.1    Rosa, H.A.V.2    Pemberton, S.3    Diniz, M.J.4    Campos, M.5    Lavinha, J.6
  • 6
    • 0028819402 scopus 로고
    • Characterization of a splicing mutation in the factor VIII gene at the RNA level
    • David D, Tavares A, Lavinha J (1995) Characterization of a splicing mutation in the factor VIII gene at the RNA level. Hum Genet 95: 109-1 1 1.
    • (1995) Hum Genet , vol.95 , pp. 109-111
    • David, D.1    Tavares, A.2    Lavinha, J.3
  • 7
    • 0026780584 scopus 로고
    • Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions
    • Fanen E Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M (1992) Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 13: 7 70-7 76.
    • (1992) Genomics , vol.13 , pp. 770-776
    • Fanen, E.1    Ghanem, N.2    Vidaud, M.3    Besmond, C.4    Martin, J.5    Costes, B.6    Plassa, F.7    Goossens, M.8
  • 8
    • 0024426307 scopus 로고
    • Factor IX
    • In Tuddenham EGD (ed): Bailliere's Clinical Haematology, Vol. 2. London: Bailliere & Tindall
    • Giannelli F (1989) Factor IX. In Tuddenham EGD (ed): Bailliere's Clinical Haematology, Vol. 2. London: Bailliere & Tindall, pp 821-848.
    • (1989) , pp. 821-848
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  • 9
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    • Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus
    • Rosenthal A, Jouet M, Kenwrick S (1992) Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nature Genet 2:107-112.
    • (1992) Nature Genet , vol.2 , pp. 107-112
    • Rosenthal, A.1    Jouet, M.2    Kenwrick, S.3
  • 10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.