메뉴 건너뛰기




Volumn 20, Issue , 2014, Pages 535-544

Molecular genetic diagnostic techniques in choroideremia

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; PEPTIDES AND PROTEINS; RAB ESCORT PROTEIN 1; UNCLASSIFIED DRUG;

EID: 84899635270     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (26)

References (22)
  • 2
    • 0027339162 scopus 로고
    • Retinal degeneration in choroideremia: Deficiency of rab geranylgeranyl transferase
    • [PMID: 8380507]
    • Seabra MC, Brown MS, Goldstein JL. Retinal degeneration in choroideremia: Deficiency of rab geranylgeranyl transferase. Science 1993; 259:377-81. [PMID: 8380507].
    • (1993) Science , vol.259 , pp. 377-381
    • Seabra, M.C.1    Brown, M.S.2    Goldstein, J.L.3
  • 3
    • 0028822704 scopus 로고
    • Deficient geranylgeranylation of Ram/Rab27 in choroideremia
    • [PMID: 7592656]
    • Seabra MC, Ho YK, Anant JS. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. J Biol Chem 1995; 270:24420-7. [PMID: 7592656].
    • (1995) J Biol Chem , vol.270 , pp. 24420-24427
    • Seabra, M.C.1    Ho, Y.K.2    Anant, J.S.3
  • 10
    • 84887920940 scopus 로고    scopus 로고
    • Copy number variant analysis in CHM to detect duplications underlying choroideremia
    • [PMID: 23273018]
    • Chi JY, MacDonald IM, Hume S. Copy number variant analysis in CHM to detect duplications underlying choroideremia. Ophthalmic Genet 2013; 34:229-33. [PMID: 23273018].
    • (2013) Ophthalmic Genet , vol.34 , pp. 229-233
    • Chi, J.Y.1    Macdonald, I.M.2    Hume, S.3
  • 12
    • 2942575037 scopus 로고    scopus 로고
    • Structure of the Rab7:REP-1 complex: Insights into the mechanism of Rab prenylation and choroideremia disease
    • [PMID: 15186776]
    • Rak A, Pylypenko O, Niculae A, Pyatkov K, Goody RS, Alexandrov K. Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease. Cell 2004; 117:749-60. [PMID: 15186776].
    • (2004) Cell , vol.117 , pp. 749-760
    • Rak, A.1    Pylypenko, O.2    Niculae, A.3    Pyatkov, K.4    Goody, R.S.5    Alexandrov, K.6
  • 14
    • 7144223296 scopus 로고
    • Gene action in the X-chromosome of the mouse (Mus musculus L.)
    • [PMID: 13764598]
    • Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 1961; 190:372-3. [PMID: 13764598].
    • (1961) Nature , vol.190 , pp. 372-3373
    • Lyon, M.F.1
  • 16
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequence
    • [PMID: 1427786]
    • Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequence. Hum Genet 1992; 90:41-54. [PMID: 1427786].
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 18
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    • [PMID: 12060695]
    • Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002; 30:e57-[PMID: 12060695]].
    • (2002) Nucleic Acids Res , vol.30
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3    Zwijnenburg, D.4    Diepvens, F.5    Pals, G.6
  • 19
    • 49149098054 scopus 로고    scopus 로고
    • A meta-analysis of nonsense mutations causing human genetic disease
    • [PMID: 18454449]
    • Mort M, Ivanov D, Cooper DN, Chuzhanova NA. A meta-analysis of nonsense mutations causing human genetic disease. Hum Mutat 2008; 29:1037-47. [PMID: 18454449].
    • (2008) Hum Mutat , vol.29 , pp. 1037-1047
    • Mort, M.1    Ivanov, D.2    Cooper, D.N.3    Chuzhanova, N.A.4
  • 20
    • 0037308625 scopus 로고    scopus 로고
    • Translational control by the 3′-UTR: The ends specify the means
    • [PMID: 12575997]
    • Mazumder B, Seshadri V, Fox PL. Translational control by the 3′-UTR: The ends specify the means. Trends Biochem Sci 2003; 28:91-8. [PMID: 12575997].
    • (2003) Trends Biochem Sci , vol.28 , pp. 91-98
    • Mazumder, B.1    Seshadri, V.2    Fox, P.L.3
  • 21
    • 50549218525 scopus 로고
    • The limited in vitro lifetime of human diploid cell strains
    • [PMID: 14315085]
    • Hayflick L. The limited in vitro lifetime of human diploid cell strains. Exp Cell Res 1965; 37:614-36. [PMID: 14315085].
    • (1965) Exp Cell Res , vol.37 , pp. 614-636
    • Hayflick, L.1
  • 22
    • 0021688283 scopus 로고
    • Use of cyclosporin A in establishing epstein-barr virus-transformed human lymphoblastoid cell lines
    • [PMID: 6519667]
    • Anderson MA, Gusella JF. Use of cyclosporin A in establishing epstein-barr virus-transformed human lymphoblastoid cell lines. In Vitro 1984; 20:856-8. [PMID: 6519667].
    • (1984) In Vitro , vol.20 , pp. 856-8858
    • Anderson, M.A.1    Gusella, J.F.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.