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Volumn 62, Issue 2, 2002, Pages 165-168

Spinal muscular atrophy in black South Africans: Concordance with the universal SMN1 genotype

Author keywords

Black South Africans; Spinal muscular atrophy

Indexed keywords

GENOMIC DNA;

EID: 0036705947     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.620210.x     Document Type: Short Survey
Times cited : (10)

References (18)
  • 2
    • 0032991013 scopus 로고    scopus 로고
    • Spinal muscular atrophies: Recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, the Netherlands
    • 59th ENMC, International Workshop
    • th ENMC, International Workshop. Spinal muscular atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, the Netherlands. Neuromuscl Disord 1999: 9: 272-278.
    • (1999) Neuromuscl. Disord. , vol.9 , pp. 272-278
  • 3
    • 0029926857 scopus 로고    scopus 로고
    • Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: Further delineation on the basis of SMN gene deletion findings
    • Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics 1996: 27: 8-15.
    • (1996) Neuropediatrics , vol.27 , pp. 8-15
    • Rudnik-Schöneborn, S.1    Forkert, R.2    Hahnen, E.3    Wirth, B.4    Zerres, K.5
  • 5
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A 1999: 96: 6307-6311.
    • (1999) Proc. Natl. Acad. Sci. U S A , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 6
    • 0032799998 scopus 로고    scopus 로고
    • A single difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
    • Monani UR, Lorson CL, Parsons DW et al. A single difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999: 8: 1177-1183.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1177-1183
    • Monani, U.R.1    Lorson, C.L.2    Parsons, D.W.3
  • 7
    • 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: 228-237.
    • (2000) Hum. Mutat. , vol.15 , pp. 228-237
    • Wirth, B.1
  • 8
    • 0025012962 scopus 로고
    • Spinal muscular atrophy in African children
    • Moosa A, Dawood A. Spinal muscular atrophy in African children. Neuropediatrics 1990: 21: 27-31.
    • (1990) Neuropediatrics , vol.21 , pp. 27-31
    • Moosa, A.1    Dawood, A.2
  • 9
    • 0033615566 scopus 로고    scopus 로고
    • Different molecular basis for spinal muscular atrophy in South African black patients
    • Stevens G, Yawitch T, Rodda J, Verhaart S, Krause A. different molecular basis for spinal muscular atrophy in South African black patients. Am J Med Genet 1999: 86: 420-426.
    • (1999) Am. J. Med. Genet. , vol.86 , pp. 420-426
    • Stevens, G.1    Yawitch, T.2    Rodda, J.3    Verhaart, S.4    Krause, A.5
  • 10
    • 0035068620 scopus 로고    scopus 로고
    • Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes
    • Haider MZ, Moosa A, Dalal H, Habib Y, Reynolds L. Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes. J Biomed Sci 2001: 8: 191-196.
    • (2001) J. Biomed. Sci. , vol.8 , pp. 191-196
    • Haider, M.Z.1    Moosa, A.2    Dalal, H.3    Habib, Y.4    Reynolds, L.5
  • 11
    • 0028922174 scopus 로고
    • PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
    • Van der Steege G, Grootscholten PM, Van der Vlies P et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Nature 1995: 345: 985-986.
    • (1995) Nature , vol.345 , pp. 985-986
    • Van der Steege, G.1    Grootscholten, P.M.2    Van der Vlies, P.3
  • 12
    • 0028797783 scopus 로고
    • Identification and characterisation of a spinal muscular atrophy-determining gene
    • Lefebvre S, Burglen L, Reboullet S et al. Identification and characterisation 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
  • 13
    • 0029858451 scopus 로고    scopus 로고
    • Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy. New insights into molecular mechanisms responsible for the disease
    • Hahnen E, Schonling J, Rudnick-Schoneborn S, Zerres K, Wirth B. Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy. New insights into molecular mechanisms responsible for the disease. Am J Hum Genet 1996: 59: 1057-1065.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 1057-1065
    • Hahnen, E.1    Schonling, J.2    Rudnick-Schoneborn, S.3    Zerres, K.4    Wirth, B.5
  • 15
    • 0030969388 scopus 로고    scopus 로고
    • Oculocutaneous albinism (OCA2) in Sub-Saharan Africa: Distribution of the common 2.7kb P gene mutation
    • Stevens G, Ramsay M, Jenkins T. Oculocutaneous albinism (OCA2) in Sub-Saharan Africa: distribution of the common 2.7kb P gene mutation. Hum Genet 1997: 99: 523-527.
    • (1997) Hum. Genet. , vol.99 , pp. 523-527
    • Stevens, G.1    Ramsay, M.2    Jenkins, T.3
  • 16
    • 0035169491 scopus 로고    scopus 로고
    • The molecular basis of cystic fibrosis in South Africa
    • Goldman A, Labrum R, Clautres M et al. The molecular basis of cystic fibrosis in South Africa. Clin Genet 2001: 59: 37-41.
    • (2001) Clin. Genet. , vol.59 , pp. 37-41
    • Goldman, A.1    Labrum, R.2    Clautres, M.3
  • 17
    • 84925910535 scopus 로고    scopus 로고
    • The spread of the Bantu languages
    • Phillipson DW. The spread of the Bantu languages. Sci Am 1997: 236: 106-114.
    • (1997) Sci. Am. , vol.236 , pp. 106-114
    • Phillipson, D.W.1
  • 18
    • 0012619551 scopus 로고    scopus 로고
    • Spinal muscular atrophy in the South African black population
    • (Abstract)
    • Labrum R, Rodda J, Krause A. Spinal muscular atrophy in the South African black population. Neuromuscl Disord 2000: 10: 366-367 (Abstract).
    • (2000) Neuromuscl. Disord. , vol.10 , pp. 366-367
    • Labrum, R.1    Rodda, J.2    Krause, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.