메뉴 건너뛰기




Volumn 65, Issue 6, 1997, Pages 849-854

The protein truncation test (PTT) as a method of detection for choroideremia mutations

Author keywords

Choroideremia; Mutation detection; Protein truncation test

Indexed keywords

COMPLEMENTARY DNA; RNA;

EID: 0345698820     PISSN: 00144835     EISSN: None     Source Type: Journal    
DOI: 10.1006/exer.1997.0392     Document Type: Article
Times cited : (24)

References (12)
  • 1
    • 0029848852 scopus 로고    scopus 로고
    • Update on nomenclature for human gene mutations
    • Ad Hoc Committee on Mutation Nomenclature 202
    • Ad Hoc Committee on Mutation Nomenclature. 1996, Update on nomenclature for human gene mutations. Hum. Mutat. 8, 197, 202.
    • (1996) Hum. Mutat. , vol.8 , pp. 197
  • 2
    • 0027300621 scopus 로고
    • CDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein
    • 9
    • Andres, D. A. Seabra, M. C. Brown, M. S. Armstrong, S. A. Smeland, T. E. Cremers, F. P. M. Goldstein, J. L. 1993, cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. Cell, 73, 1091, 9.
    • (1993) Cell , vol.73 , pp. 1091
    • 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
    • 0023277545 scopus 로고
    • Single step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction
    • 9
    • Chomczynski, P. Saachi, N. 1987, Single step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156, 9.
    • (1987) Anal. Biochem. , vol.162 , pp. 156
    • Chomczynski, P.1    Saachi, N.2
  • 6
    • 0026343877 scopus 로고
    • Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes
    • 310
    • Roberts, R. G. Barby, T. F. M. Manners, E. Bobrow, M. Bentley, D. R. 1991, Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am. J. Hum. Genet. 49, 298, 310.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 298
    • Roberts, R.G.1    Barby, T.F.M.2    Manners, E.3    Bobrow, M.4    Bentley, D.R.5
  • 8
    • 0026629308 scopus 로고
    • Rab geranylgeranyl transferase: A multisubunit enzyme that prenylates GTP-binding proteins terminating in Cys-X-Cys or Cys-Cys
    • 503
    • Seabra, M. C. Goldstein, J. L. Sühof, T. C. Brown, M. S. 1992, Rab geranylgeranyl transferase: a multisubunit enzyme that prenylates GTP-binding proteins terminating in Cys-X-Cys or Cys-Cys. J. Biol. Chem. 267, 14497, 503.
    • (1992) J. Biol. Chem. , vol.267 , pp. 14497
    • Seabra, M.C.1    Goldstein, J.L.2    Sühof, T.C.3    Brown, M.S.4
  • 9
    • 0029144051 scopus 로고
    • Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation
    • 35
    • Tuffery, S. Uwe, L. Roberts, R. G. Coubes, C. Demaille, J. Claustres, M. 1995, Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum. Mutat. 6, 126, 35.
    • (1995) Hum. Mutat. , vol.6 , pp. 126
    • Tuffery, S.1    Uwe, L.2    Roberts, R.G.3    Coubes, C.4    Demaille, J.5    Claustres, M.6
  • 12
    • 0028289053 scopus 로고
    • Rapid detection of translation-terminating mutations at the polyadenomatous polyposis coli (APC) gene by direct protein truncation test
    • 4
    • van den Luijt, R. Kahn, M. P. Vasen, H. van Leeuwen, C. Tops, C. Roest, P. den Dunnen, J. Fodde, R. 1994, Rapid detection of translation-terminating mutations at the polyadenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics, 20, 1, 4.
    • (1994) Genomics , vol.20 , pp. 1
    • Van Den Luijt, R.1    Kahn, M.P.2    Vasen, H.3    Van Leeuwen, C.4    Tops, C.5    Roest, P.6    Den Dunnen, J.7    Fodde, R.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.