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Volumn 23, Issue 4, 2004, Pages 392-393

Importance of Standard Nomenclature for SMN1 Small Intragenic ("Subtle") Mutations

Author keywords

[No Author keywords available]

Indexed keywords

DATA BASE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; LETTER; NOMENCLATURE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SMN1 GENE; STANDARD;

EID: 1842715108     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20013     Document Type: Letter
Times cited : (4)

References (13)
  • 1
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations
    • Nomenclature Working Group
    • Antonarakis SE. 1998. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 11:1-3.
    • (1998) Hum Mutat , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 2
    • 0029803986 scopus 로고    scopus 로고
    • Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
    • Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G. 1996. Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol Genet 5: 1971-1976.
    • (1996) Hum Mol Genet , vol.5 , pp. 1971-1976
    • Brahe, C.1    Clermont, O.2    Zappata, S.3    Tiziano, F.4    Melki, J.5    Neri, G.6
  • 4
    • 0043094001 scopus 로고    scopus 로고
    • A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene
    • Cusco I, Lopez E, Soler-Botija C, Barcelo MJ, Baiget M, Tizzano E. 2003. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. Hum Mutat 22:136-143.
    • (2003) Hum Mutat , vol.22 , pp. 136-143
    • Cusco, I.1    Lopez, E.2    Soler-Botija, C.3    Barcelo, M.J.4    Baiget, M.5    Tizzano, E.6
  • 5
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 6
    • 0042316754 scopus 로고    scopus 로고
    • Standardizing mutation nomenclature: Why bother?
    • den Dunnen JT, Paalman MH. 2003. Standardizing mutation nomenclature: why bother? Hum Mutat 22:181-182.
    • (2003) Hum Mutat , vol.22 , pp. 181-182
    • Den Dunnen, J.T.1    Paalman, M.H.2
  • 7
    • 0036523944 scopus 로고    scopus 로고
    • Genetic study of SMA patients without homozygous SMN1 deletions: Identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations
    • Martin Y, Valero A, del Castillo E, Pascual SI, Hernandez-Chico C. 2002. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations. Hum Genet 110:257-263.
    • (2002) Hum Genet , vol.110 , pp. 257-263
    • Martin, Y.1    Valero, A.2    Del Castillo, E.3    Pascual, S.I.4    Hernandez-Chico, C.5
  • 8
    • 0036942226 scopus 로고    scopus 로고
    • Genetic testing and risk assessment for spinal muscular atrophy (SMA)
    • Ogino S, Wilson RB. 2002. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet 111:477-500.
    • (2002) Hum Genet , vol.111 , pp. 477-500
    • Ogino, S.1    Wilson, R.B.2
  • 9
    • 0346502172 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Molecular genetics and diagnosis
    • Ogino S, Wilson RB. 2004. Spinal muscular atrophy: molecular genetics and diagnosis. Expert Rev Mol Diagn 4:15-29.
    • (2004) Expert Rev Mol Diagn , vol.4 , pp. 15-29
    • Ogino, S.1    Wilson, R.B.2
  • 10
    • 0032471510 scopus 로고    scopus 로고
    • Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number
    • Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW. 1998. Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet 63:1712-1723.
    • (1998) Am J Hum Genet , vol.63 , pp. 1712-1723
    • Parsons, D.W.1    McAndrew, P.E.2    Iannaccone, S.T.3    Mendell, J.R.4    Burghes, A.H.5    Prior, T.W.6
  • 12
    • 0035132011 scopus 로고    scopus 로고
    • Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype
    • Sossi V, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C. 2001. Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. Eur J Hum Genet 9: 113-120.
    • (2001) Eur J Hum Genet , vol.9 , pp. 113-120
    • Sossi, V.1    Giuli, A.2    Vitali, T.3    Tiziano, F.4    Mirabella, M.5    Antonelli, A.6    Neri, G.7    Brahe, C.8
  • 13
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.