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Volumn 22, Issue 6, 2005, Pages 599-602

Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy

Author keywords

Genetic counseling; Real time fluorescence quantitative PCR; Spinal muscular atrophy

Indexed keywords

PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG; SMN1 PROTEIN, HUMAN;

EID: 29244439913     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (12)
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    • Ogino, S.1    Wilson, R.B.2
  • 2
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    • An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
    • Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat, 2000, 15:228-237.
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    • Wirth, B.1
  • 3
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    • Using polymerase chain reaction single strand conformation polymorphism to detect SMNT gene deletions and to confirm clinical diagnosis of spinal muscular atrophy in Chinese
    • Wu ZY, Wang N, Mu-Hong SX, et al. Using polymerase chain reaction single strand conformation polymorphism to detect SMNT gene deletions and to confirm clinical diagnosis of spinal muscular atrophy in Chinese. Chin J Neurol, 1998, 31:289-291.
    • (1998) Chin J Neurol , vol.31 , pp. 289-291
    • Wu, Z.Y.1    Wang, N.2    Mu-Hong, S.X.3
  • 5
    • 20644472235 scopus 로고    scopus 로고
    • Rapid diagnosis of spinal muscular atrophy using denaturing high-performance liquid chromatography
    • Chen WJ, Wu ZY, Wang N, et al. Rapid diagnosis of spinal muscular atrophy using denaturing high-performance liquid chromatography. Chin J Med Genet, 2005, 22:291-293.
    • (2005) Chin J Med Genet , vol.22 , pp. 291-293
    • Chen, W.J.1    Wu, Z.Y.2    Wang, N.3
  • 6
    • 15744381713 scopus 로고
    • Kinetic PCR analysis: Real-time monitoring of DNA amplification reactions
    • Higuchi R, Fockler C, Dollinger G, et al. Kinetic PCR analysis: real-time monitoring of DNA amplification reactions. Biotechnology (NY), 1993, 11:1026-1030.
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    • Higuchi, R.1    Fockler, C.2    Dollinger, G.3
  • 7
    • 0031030666 scopus 로고    scopus 로고
    • Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy
    • Schwartz M, Sorensen N, Hansen FJ, et al. Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy. Hum Mol Genet, 1997, 6:99-104.
    • (1997) Hum Mol Genet , vol.6 , pp. 99-104
    • Schwartz, M.1    Sorensen, N.2    Hansen, F.J.3
  • 8
    • 0030985898 scopus 로고    scopus 로고
    • Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
    • McAndrew PE, Parsons DW, Simard LR, et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet, 1997, 60:1411-1422.
    • (1997) Am J Hum Genet , vol.60 , pp. 1411-1422
    • McAndrew, P.E.1    Parsons, D.W.2    Simard, L.R.3
  • 9
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    • Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension
    • Gerard B, Ginet N, Matthijs G, et al. Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension. Hum Mutat, 2000, 16:253-263.
    • (2000) Hum Mutat , vol.16 , pp. 253-263
    • Gerard, B.1    Ginet, N.2    Matthijs, G.3
  • 10
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    • Quantitative analysis of SMN gene copies in spinal muscular atrophy
    • Ding HX, Yang XS, Xiao B, et al. Quantitative analysis of SMN gene copies in spinal muscular atrophy. Chin J Med Genet, 2004, 21:153-155.
    • (2004) Chin J Med Genet , vol.21 , pp. 153-155
    • Ding, H.X.1    Yang, X.S.2    Xiao, B.3
  • 11
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    • Quantitative analyses of SMN1 and SMN2 based on real-time lightcycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
    • Feldkotter M, Schwarzer V, Wirth R, et al. Quantitative analyses of SMN1 and SMN2 based on real-time lightcycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet, 2002, 70:358-368.
    • (2002) Am J Hum Genet , vol.70 , pp. 358-368
    • Feldkotter, M.1    Schwarzer, V.2    Wirth, R.3
  • 12
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    • Ogino, S.1    Wilson, R.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.