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Volumn 7, Issue 4, 2003, Pages 277-281

Comparison of PCR-RFLP with Allele-Specific PCR in Genetic Testing for Spinal Muscular Atrophy

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; EXON; GENE AMPLIFICATION; GENE DELETION; GENETIC PROCEDURES; HUMAN; INTERMETHOD COMPARISON; POLYMERASE CHAIN REACTION; PREDICTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPINAL MUSCULAR ATROPHY;

EID: 1042266546     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065703322783626     Document Type: Article
Times cited : (13)

References (11)
  • 4
    • 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. 96, 6307-6311.
    • (1999) Proc. Natl. Acad. Sci. , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 8
  • 10
    • 0034007548 scopus 로고    scopus 로고
    • An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
    • WIRTH, B. (2000). An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum. Mutat. 15, 228-237.
    • (2000) Hum. Mutat. , vol.15 , pp. 228-237
    • Wirth, B.1
  • 11
    • 0033358719 scopus 로고    scopus 로고
    • Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
    • WIRTH, B., HERZ, M., WETTER, A., MOSKAU, S., HAHNEN, E., RUDNIK-SCHOENEBORN, S., WIENKER, T., and ZERRES, K. (1999). Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am. J. Hum. Genet. 64, 1340-1356.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1340-1356
    • Wirth, B.1    Herz, M.2    Wetter, A.3    Moskau, S.4    Hahnen, E.5    Rudnik-Schoeneborn, S.6    Wienker, T.7    Zerres, K.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.