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Volumn 11, Issue SUPPL 1, 1998, Pages

The Δ327 mutation in the Fanconi anemia group C gene generates a novel transcript lacking the first two coding exons

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; POLYADENYLATED RNA; CELL CYCLE PROTEIN; DNA BINDING PROTEIN; FANCC PROTEIN, HUMAN; FANCONI ANEMIA GROUP C PROTEIN; FANCONI ANEMIA PROTEIN; NUCLEAR PROTEIN; PROTEIN;

EID: 0031975418     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110187     Document Type: Article
Times cited : (4)

References (13)
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  • 3
    • 0027339986 scopus 로고
    • A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia. (FACC)protein
    • Gavish H, Dos Santos CC, Buchwald M (1993) A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. Hum Mol Genet 2:123-126.
    • (1993) Hum Mol Genet , vol.2 , pp. 123-126
    • Gavish, H.1    Dos Santos, C.C.2    Buchwald, M.3
  • 4
    • 0027407408 scopus 로고
    • Characterization of the exon structure of the Fanconi anaemia group C gene by vectorette PCR
    • Gibson RA, Buchwald M, Roberts RG, Mathew CG (1993) Characterization of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. Hum Mol Genet 2:35-38.
    • (1993) Hum Mol Genet , vol.2 , pp. 35-38
    • Gibson, R.A.1    Buchwald, M.2    Roberts, R.G.3    Mathew, C.G.4
  • 5
    • 0003505215 scopus 로고
    • PCR Protocols: A Guide to Methods and Applications
    • San Diego:Academic Press
    • Innis MA, Gelfand DH, Sninsky Jj, White TJ (eds) (1990) PCR Protocols: A Guide to Methods and Applications. San Diego: Academic Press, 482 pp.
    • (1990) , pp. 482
    • Innis, M.A.1    Gelfand, D.H.2    Sninsky, J.J.3    White, T.J.4
  • 7
    • 0026080111 scopus 로고
    • A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
    • Lahiri DK, Nurnberger JI Jr (1991) A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19:5444.
    • (1991) Nucleic Acids Res , vol.19 , pp. 5444
    • Lahiri, D.K.1    Nurnberger, J.I.2
  • 10
    • 0026878842 scopus 로고
    • Evidence for at least four Fanconi anemia genes including FACC on chromosome 9
    • Strathdee CA, Duncan AMV, Buchwald M (1992a) Evidence for at least four Fanconi anemia genes including FACC on chromosome 9. Nature Genet 1:196-198.
    • (1992) Nature Genet , vol.1 , pp. 196-198
    • Strathdee, C.A.1    Duncan, A.M.V.2    Buchwald, M.3
  • 11
    • 0026521238 scopus 로고
    • Cloning of cDNAs for Fanconi's anaemia by functional complementation
    • Strathdee CA, Gavish H, Shannon WR, Buchwald M (1992b) Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356:763-767.
    • (1992) Nature , vol.356 , pp. 763-767
    • Strathdee, C.A.1    Gavish, H.2    Shannon, W.R.3    Buchwald, M.4
  • 13
    • 0029988091 scopus 로고    scopus 로고
    • Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity
    • Yamashita T, Wu N, Kupfer G, Corless C, Joenje H, Grompe M, D'Andrea AD (1996) Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. Blood 87:4424-4432.
    • (1996) Blood , vol.87 , pp. 4424-4432
    • Yamashita, T.1    Wu, N.2    Kupfer, G.3    Corless, C.4    Joenje, H.5    Grompe, M.6    D'Andrea, A.D.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.