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Volumn 6, Issue 1, 1997, Pages 99-104

Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CENTROMERE; CHROMOSOME; CLINICAL ARTICLE; GENE DELETION; GENE SEQUENCE; HAPLOTYPE; HUMAN; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TELOMERE;

EID: 0031030666     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.1.99     Document Type: Article
Times cited : (30)

References (27)
  • 1
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    • Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications
    • Zerres,K. and Rudnik-Schönebom,S. (1995) Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch. Neurol., 5, 2518-2523.
    • (1995) Arch. Neurol. , vol.5 , pp. 2518-2523
    • Zerres, K.1    Rudnik-Schönebom, S.2
  • 6
    • 0027523058 scopus 로고
    • Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies
    • Wirth,B., Voosen,B., Rohrig,D., Knapp,M., Piechaczek,B., Rudnik-Schöneborn S. and Zerres,K. (1993) Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies. Genomics, 15, 113-118.
    • (1993) Genomics , vol.15 , pp. 113-118
    • Wirth, B.1    Voosen, B.2    Rohrig, D.3    Knapp, M.4    Piechaczek, B.5    Rudnik-Schöneborn, S.6    Zerres, K.7
  • 9
    • 0029084605 scopus 로고
    • A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy
    • Yaraghi,Z., McLean,M.D., Roy,N., Surh,L., Ikeda,J.E., Korneluk,R.G. and MacKenzie,A. (1995) A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy. Hum. Genet., 96, 330-334.
    • (1995) Hum. Genet. , vol.96 , pp. 330-334
    • Yaraghi, Z.1    McLean, M.D.2    Roy, N.3    Surh, L.4    Ikeda, J.E.5    Korneluk, R.G.6    MacKenzie, A.7
  • 15
    • 0028905919 scopus 로고
    • Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
    • Rodrigues,N.R., Owen,N., Talbot,K., Ignatius,J., Dubowitz,V. and Davies,K.E. (1995) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum. Mol. Genet., 4, 631-634.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 631-634
    • Rodrigues, N.R.1    Owen, N.2    Talbot, K.3    Ignatius, J.4    Dubowitz, V.5    Davies, K.E.6
  • 21
    • 0030047445 scopus 로고    scopus 로고
    • Molecular analysis of SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between numbers of copies of cBCD541 and SMA phenotype
    • Velasco,E., Valero,C., Valero,A., Moreno,F. and Hernandez-Chico,C. (1996) Molecular analysis of SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between numbers of copies of cBCD541 and SMA phenotype. Hum. Mol. Genet, 5, 257-263.
    • (1996) Hum. Mol. Genet , vol.5 , pp. 257-263
    • Velasco, E.1    Valero, C.2    Valero, A.3    Moreno, F.4    Hernandez-Chico, C.5
  • 24
    • 0028785098 scopus 로고
    • Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
    • Hahnen,E., Forkert,R., Marke,C., Rudnik-Schöneborn,S., Schönling,J., Zerres,K. and Wirth,B. (1995) Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum. Mol. Genet., 4, 1927-1933.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1927-1933
    • Hahnen, E.1    Forkert, R.2    Marke, C.3    Rudnik-Schöneborn, S.4    Schönling, J.5    Zerres, K.6    Wirth, B.7
  • 25
    • 0028310298 scopus 로고
    • Detection of point mutations in human genes by the solid-phase minisequencing method
    • Syvänen,A.-C. (1994) Detection of point mutations in human genes by the solid-phase minisequencing method. Clin. Chim. Acta, 226, 225-236.
    • (1994) Clin. Chim. Acta , vol.226 , pp. 225-236
    • Syvänen, A.-C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.