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Volumn 237, Issue 9, 1999, Pages 735-740

REP-1 gene mutations in Japanese patients with choroideremia

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT;

EID: 0032870696     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004170050305     Document Type: Article
Times cited : (29)

References (19)
  • 1
    • 0027300621 scopus 로고
    • CDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein
    • Andres DA, Seabra MC, Brown MS, Armstrong SA, Smeland TE, Cremers FPM, Goldstein JL (1993) cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. Cell 73:1091-1099
    • (1993) Cell , vol.73 , pp. 1091-1099
    • Andres, D.A.1    Seabra, M.C.2    Brown, M.S.3    Armstrong, S.A.4    Smeland, T.E.5    Cremers, F.P.M.6    Goldstein, J.L.7
  • 3
    • 0017148259 scopus 로고
    • A general method for isolation of high molecular weight DNA from eukaryotes
    • Blin N, Stafford DW (1976) A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res 3:2303-2308
    • (1976) Nucleic Acids Res , vol.3 , pp. 2303-2308
    • Blin, N.1    Stafford, D.W.2
  • 6
    • 0031090099 scopus 로고    scopus 로고
    • A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555→stop) in the CHM gene leads to choroideremia
    • Forsythe P, Maguire A, Fujita R, Moen C, Swaroop A, Bennett J (1997) A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555→stop) in the CHM gene leads to choroideremia. Exp Eye Res 64:487-490
    • (1997) Exp Eye Res , vol.64 , pp. 487-490
    • Forsythe, P.1    Maguire, A.2    Fujita, R.3    Moen, C.4    Swaroop, A.5    Bennett, J.6
  • 10
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 15
    • 0026800719 scopus 로고
    • Purification of component A of Rab geranyl-geranyl transferase: Possible identity with the choroideremia gene product
    • Seabra MC, Brown MS, Slaughter CA, Südhof TC, Goldstein JL (1992) Purification of component A of Rab geranyl-geranyl transferase: possible identity with the choroideremia gene product. Cell 70:1049-1057
    • (1992) Cell , vol.70 , pp. 1049-1057
    • Seabra, M.C.1    Brown, M.S.2    Slaughter, C.A.3    Südhof, T.C.4    Goldstein, J.L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.