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Volumn 7, Issue 4, 2003, Pages 325-327

Allele-Specific Amplification of Exon 7 in the Survival Motor Neuron (SMN) Genes for Molecular Diagnosis of Spinal Muscular Atrophy

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE; AGAROSE; SURVIVAL MOTOR NEURON PROTEIN;

EID: 1042289660     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065703322783699     Document Type: Article
Times cited : (10)

References (11)
  • 3
    • 0036154959 scopus 로고    scopus 로고
    • Quantitative analyses of SMN1 and SMN2 based on real-time light cycler PCR
    • FELDKOTTER, M., SCHWARZER, V., WIRTH, R., WIENKER, T.F., and WIRTH, B. (2002). Quantitative analyses of SMN1 and SMN2 based on real-time light cycler PCR. Am. J. Hum. Genet. 70, 358-368.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 358-368
    • Feldkotter, M.1    Schwarzer, V.2    Wirth, R.3    Wienker, T.F.4    Wirth, B.5
  • 6
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • LORSON, C.L., HAHNEN, E., ANDROPHY, E.J., and WIRTH, B. (1999). A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. USA 96, 6307-6311.
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 9
    • 0018906764 scopus 로고
    • Classification of spinal muscular atrophies
    • PEARN, J. (1980). Classification of spinal muscular atrophies. Lancet 1, 919-922.
    • (1980) Lancet , vol.1 , pp. 919-922
    • Pearn, J.1
  • 11
    • 0034007548 scopus 로고    scopus 로고
    • An update of the mutation spectrum of the survival motor neuron (SMN1) gene in autosomal recessive spinal muscular atrophy
    • WIRTH, B. (2000). An update of the mutation spectrum of the survival motor neuron (SMN1) gene in autosomal recessive spinal muscular atrophy. Hum. Mutat. 15, 228-237.
    • (2000) Hum. Mutat. , vol.15 , pp. 228-237
    • Wirth, B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.