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Volumn 38, Issue 11, 2005, Pages 673-676

Correlation between SMN2 copies and the phenotype of spinal muscular atrophy

Author keywords

DNA binding proteins; Muscular atrophy, spinal; Nerve tissue proteins; Phenotype; Polymerase chain reaction; RNA binding proteins

Indexed keywords

DNA BINDING PROTEIN; NERVE PROTEIN; RNA BINDING PROTEIN; SURVIVAL MOTOR NEURON PROTEIN;

EID: 32344452093     PISSN: 10067876     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (8)

References (13)
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  • 5
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    • The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in SMN (-/-) mice and results in a mouse with spinal muscular atrophy
    • Monani UR, Sendtner M, Coovert DD, et al. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in SMN (-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet, 2000, 9: 333-339.
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  • 6
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    • 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.
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  • 7
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    • 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.
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  • 8
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    • Munsat TL, Davies KE. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord, 1992, 2: 423-428.
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  • 11
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    • 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.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.