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Volumn 15, Issue 1, 2000, Pages 93-98

Deletion of SMN and NAIP genes in Korean patients with Spinal Muscular Atrophy

Author keywords

Gene Deletion; Muscular Atrophy; Neuromuscular Manifestations

Indexed keywords

BIRC1 PROTEIN, HUMAN; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; NERVE PROTEIN; NEURONAL APOPTOSIS INHIBITORY PROTEIN; RNA BINDING PROTEIN; SMN PROTEIN (SPINAL MUSCULAR ATROPHY);

EID: 0034133861     PISSN: 10118934     EISSN: None     Source Type: Journal    
DOI: 10.3346/jkms.2000.15.1.93     Document Type: Article
Times cited : (8)

References (20)
  • 1
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    • Peam, J.1
  • 2
    • 0027057672 scopus 로고
    • Meeting report: International SMA Consortium meeting
    • Munsat TM, Davies KE. Meeting report: International SMA Consortium meeting. Neuromuscul Disord 1992; 2: 423-8.
    • (1992) Neuromuscul Disord , vol.2 , pp. 423-428
    • Munsat, T.M.1    Davies, K.E.2
  • 12
    • 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-Schoneborn S, Schonling J, Zerres K, Wirth B. 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 1995; 4: 1927-33.
    • (1995) Hum Mol Genet , vol.4 , pp. 1927-1933
    • Hahnen, E.1    Forkert, R.2    Marke, C.3    Rudnik-Schoneborn, S.4    Schonling, J.5    Zerres, K.6    Wirth, B.7
  • 14
    • 0029827514 scopus 로고    scopus 로고
    • An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: Further evidence for SMN as the primary SMA-determining gene
    • Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AH, Prior TW. An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet 1996; 5: 1727-32.
    • (1996) Hum Mol Genet , vol.5 , pp. 1727-1732
    • Parsons, D.W.1    McAndrew, P.E.2    Monani, U.R.3    Mendell, J.R.4    Burghes, A.H.5    Prior, T.W.6
  • 15
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from nucleated cells. Nucleic Acids Res 1988; 16: 1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 19
    • 0030765349 scopus 로고    scopus 로고
    • Spinal muscular atrophy
    • Melki J. Spinal muscular atrophy. Curr Opin Neurol 1997; 10: 381-5.
    • (1997) Curr Opin Neurol , vol.10 , pp. 381-385
    • Melki, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.