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Volumn 14, Issue 3, 2011, Pages 188-191

Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR

Author keywords

Gene dosage; Real Time PCR; SMN1; Spinal muscular atrophy

Indexed keywords

ALBUMIN; DNA; SURVIVAL MOTOR NEURON PROTEIN 1; SMN1 PROTEIN, HUMAN;

EID: 79961187675     PISSN: 10292977     EISSN: 17353947     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (25)
  • 2
    • 0018906764 scopus 로고
    • Classification of spinal muscular atrophies
    • Pearn J. Classification of spinal muscular atrophies. Lancet. 1980; 1: 919-922. (Pubitemid 10144202)
    • (1980) Lancet , vol.1 , Issue.8174 , pp. 919-922
    • Pearn, J.1
  • 3
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995; 80: 155-165.
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Burglen, L.2    Reboullet, S.3    Clermont, O.4    Burlet, P.5    Viollet, L.6
  • 4
    • 0028896092 scopus 로고
    • The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
    • Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell. 1995; 80: 167-178.
    • (1995) Cell , vol.80 , pp. 167-178
    • Roy, N.1    Mahadevan, M.S.2    McLean, M.3    Shutler, G.4    Yaraghi, Z.5    Farahani, R.6
  • 8
    • 0028785098 scopus 로고
    • Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletion of SMN gene in unaffected individuals
    • Hahnen E, Forkert R, Marke C, Rudnik-Schöreborn S, Schönling J, Zerres K, et al. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletion of SMN gene in unaffected individuals. Hum Mol Genet. 1995; 4: 1927-1933.
    • (1995) Hum Mol Genet , vol.4 , pp. 1927-1933
    • Hahnen, E.1    Forkert, R.2    Marke, C.3    Rudnik-Schöreborn, S.4    Schönling, J.5    Zerres, K.6
  • 9
    • 0028905919 scopus 로고
    • Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
    • Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet. 1995; 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
  • 11
    • 0030047445 scopus 로고    scopus 로고
    • Molecular analysis of the SMN and NAIP genes in Spanish families and correlation between number of copies of cBCD541 and SMA phenotype
    • Velasco E, Valero C, Valero A, Moreno F, Hernández-Chico C. Molecular analysis of the SMN and NAIP genes in Spanish families and correlation between number of copies of cBCD541 and SMA phenotype. Hum Mol Genet. 1996; 5: 257-263.
    • (1996) Hum Mol Genet , vol.5 , pp. 257-263
    • Velasco, E.1    Valero, C.2    Valero, A.3    Moreno, F.4    Hernández-Chico, C.5
  • 12
    • 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. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat. 2000; 15: 220-237.
    • (2000) Hum Mutat , vol.15 , pp. 220-237
    • Wirth, B.1
  • 13
    • 0032799998 scopus 로고    scopus 로고
    • A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
    • Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet. 1999a; 8: 1177-1183.
    • (1999) Hum Mol Genet , vol.8 , pp. 1177-1183
    • Monani, U.R.1    Lorson, C.L.2    Parsons, D.W.3    Prior, T.W.4    Androphy, E.J.5    Burghes, A.H.6
  • 15
    • 0031059705 scopus 로고    scopus 로고
    • Deletions and conversion in spinal muscular atrophy patients: Is there a relationship to severity?
    • DiDonato CJ, Ingraham SE, Mendell JR, Prior TW, Lenard S, Moxley R, et al. Deletions and conversion in spinal muscular atrophy patients: Is there a relationship to severity? Ann Neurol. 1997b; 41: 230-237.
    • (1997) Ann Neurol , vol.41 , pp. 230-237
    • DiDonato, C.J.1    Ingraham, S.E.2    Mendell, J.R.3    Prior, T.W.4    Lenard, S.5    Moxley, R.6
  • 16
    • 0028842926 scopus 로고
    • A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
    • Bussaglia E, Clermont O, Tizzano E, Lefebvr S, Burglen L, Cruaud C, et al. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet. 1995; 11: 335-337.
    • (1995) Nat Genet , vol.11 , pp. 335-337
    • Bussaglia, E.1    Clermont, O.2    Tizzano, E.3    Lefebvr, S.4    Burglen, L.5    Cruaud, C.6
  • 17
    • 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. Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol. Genet. 1996; 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
  • 18
    • 0031044279 scopus 로고    scopus 로고
    • Missense mutation clustering in the survival motor neuron gene: A role for a conserved trysine and glycine rich region of the protein in RNA metabolism
    • Talbot K, Porting CP, Theodosiou AM, Rodriques NR, Surtees R, Mountford R. Missense mutation clustering in the survival motor neuron gene: A role for a conserved trysine and glycine rich region of the protein in RNA metabolism. Hum Mol Genet. 1997; 6: 497-450.
    • (1997) Hum Mol Genet , vol.6 , pp. 497-1450
    • Talbot, K.1    Porting, C.P.2    Theodosiou, A.M.3    Rodriques, N.R.4    Surtees, R.5    Mountford, R.6
  • 19
    • 73449116062 scopus 로고    scopus 로고
    • Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population
    • Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, et al. Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population. Eur J Neurol. 17: 160-162.
    • Eur J Neurol , vol.17 , pp. 160-162
    • Hasanzad, M.1    Azad, M.2    Kahrizi, K.3    Saffar, B.S.4    Nafisi, S.5    Keyhanidoust, Z.6
  • 20
    • 0034869225 scopus 로고    scopus 로고
    • Best practice guidelines for molecular analysis in spinal muscular atrophy
    • DOI 10.1038/sj.ejhg.5200667
    • Scheffer H, Cobben JM, Matthijs G, Wirth B. Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur J Hum Genet. 2001; 9: 484-491. (Pubitemid 32750488)
    • (2001) European Journal of Human Genetics , vol.9 , Issue.7 , pp. 484-491
    • Scheffer, H.1    Cobben, J.M.2    Matthijs, G.3    Wirth, B.4
  • 21
    • 12144277279 scopus 로고    scopus 로고
    • Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in korean population based on real-time PCR
    • Lee TM, Kim SW, Lee KS, Ji HS, Koo SK, Jo I, et al. Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR. J Korean Med Sci. 2004; 19: 870-873. (Pubitemid 40104882)
    • (2004) Journal of Korean Medical Science , vol.19 , Issue.6 , pp. 870-873
    • Lee, T.-M.1    Kim, S.-W.2    Lee, K.-S.3    Jin, H.-S.4    Koo, S.K.5    Jo, I.6    Kang, S.7    Jung, S.-C.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.