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Volumn 62, Issue 6, 1998, Pages 491-504

Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FORMAMIDE; UREA;

EID: 0032447787     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-1809.1998.6260491.x     Document Type: Article
Times cited : (19)

References (17)
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  • 3
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    • Reduced penetrance in tuberous sclerosis
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    • 0027770784 scopus 로고
    • Identification and characterization of the tuberous sclerosis gene on chromosome 16
    • THE EUROPEAN CHROMOSOME 16 TUBEROUS SCLEROSIS CONSORTIUM (1993). Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75, 1305-15.
    • (1993) Cell , vol.75 , pp. 1305-1315
  • 7
    • 0031695893 scopus 로고    scopus 로고
    • Critical Factors in the performance and cost of two-dimensional gene scanning: RB1 as a model
    • DHANDA, R. K., VAN ORSOUW, N. J., SIGALAS, I., ENG, C. & VIJG, J. (1998). Critical Factors in the performance and cost of two-dimensional gene scanning: RB1 as a model. Biotechniques 25, 664-675.
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  • 8
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    • Eng, C.1    Vijg, J.2
  • 10
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
    • GANGULY, A., ROCK, M. J. & PROCKOP, D. J. (1993). Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc. Natl. Acad. Sci. U.S.A. 90, 10325-9.
    • (1993) Proc. Natl. Acad. Sci. U.S.A. , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 11
    • 0031437217 scopus 로고    scopus 로고
    • Genetic analysis by peptide nucleic acid affinity MALDI-TOF mass spectrometry
    • GRIFFIN, T. J., TANG, W. & SMITH, L. M. (1997). Genetic analysis by peptide nucleic acid affinity MALDI-TOF mass spectrometry. Nat. Biotechnol. 15, 1368-72.
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  • 12
    • 0030696314 scopus 로고    scopus 로고
    • Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
    • JONES, A. C., DANIELLS, C. E., SNELL, R. G., TACHATAKI, M., IDZIASZCZYK, S. A., KRAWCZAK, M., SAMPSON, J. R., & CHEADLE, J. P. (1997). Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum. Mol. Genet. 6, 2155-61.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 2155-2161
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    • Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system
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    • MAHESHWAR, M. M., CHEADLE, J. P., JONES, A. C., MYRING, J., FRYER, A. E., HARRIS, P. C. & SAMPSON, J. R. (1997). The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Hum. Mol. Genet. 6, 1991-6.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.