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Volumn 75, Issue 4, 1996, Pages 243-247

FISH detection of chromosome polymorphism and deletions in the spinal muscular atrophy (SMA) region of 5q13

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 5Q; CHROMOSOME POLYMORPHISM; CLINICAL ARTICLE; CONTROLLED STUDY; COSMID; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE NUMBER; HUMAN; HUMAN CELL; PLASMID; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

EID: 0030498237     PISSN: 03010171     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000134493     Document Type: Article
Times cited : (18)

References (15)
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    • Deletions of the survival motor neuron (SMN) gene in unaffected siblings of patients with spinal muscular atrophy (SMA)
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    • (1995) Am J Hum Genet , vol.57 , pp. 805-808
    • Cobben, J.M.1    Steege, G.2    Grootschollen, P.3    Visscr, M.4    Scheffer, H.5    Buys, C.6
  • 5
    • 0028785098 scopus 로고
    • Molecular analysis of candidate genes on chromosome 5q 13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
    • Hahnen E, Forkcrt R, Marke C, Rudnik-Schonebom S, Schonling J, Zerres K, Wirth B: Molecular analysis of candidate genes on chromosome 5q 13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum molec Genet 4:1927-1935 (1995).
    • (1995) Hum Molec Genet , vol.4 , pp. 1927-1935
    • Hahnen, E.1    Forkcrt, R.2    Marke, C.3    Rudnik-Schonebom, S.4    Schonling, J.5    Zerres, K.6    Wirth, B.7
  • 7
    • 0026673160 scopus 로고
    • Detection of retinoblastoma gene copy number in metaphase chromosomes and interphase nuclei by fluorescence in situ hybridization
    • Kallioniemi A, Kallioniemi O, Waldman F, Chen LC, Yu LC, Fung YKT, Smith H: Detection of retinoblastoma gene copy number in metaphase chromosomes and interphase nuclei by fluorescence in situ hybridization. Cvtogenet Cell Genet 60:190-193 (1992).
    • (1992) Cvtogenet Cell Genet , vol.60 , pp. 190-193
    • Kallioniemi, A.1    Kallioniemi, O.2    Waldman, F.3    Chen, L.C.4    Yu, L.C.5    Fung, Y.6    Smith, H.7
  • 8
    • 0025170695 scopus 로고
    • Interphase and metaphase resolution of different distances within the human dvstrophin gene
    • Lawrence JB, Singer RH, McNeil JA: Interphase and metaphase resolution of different distances within the human dvstrophin gene. Science 249:928-932 (1990).
    • (1990) Science , vol.249 , pp. 928-932
    • Lawrence, J.B.1    Singer, R.H.2    McNeil, J.A.3
  • 10
    • 0028812154 scopus 로고
    • Genes for SMA: Mullum in parvo
    • Lewin B. Genes for SMA: mullum in parvo. Cell 80:1-5 (1995).
    • (1995) Cell , vol.80 , pp. 1-5
    • Lewin, B.1
  • 11
    • 0025299356 scopus 로고    scopus 로고
    • Mapping of the acute (Type I) spinal muscular atrophy to chromosome 5ql2-»ql4
    • Melki J, Sheth P, Abdelhak S, Burlet P, Bachelot M, Lathrop M, Frezal J, Munnich A, and the French Spinal Muscular Atrophy Investigators: Mapping of the acute (type I) spinal muscular atrophy to chromosome 5ql2-»ql4. Lancet 336:271-273 (1996).
    • (1996) Lancet , vol.336 , pp. 271-273
    • Melki, J.1    Sheth, P.2    Abdelhak, S.3    Burlet, P.4    Bachelot, M.5    Lathrop, M.6    Frezal, J.7    Munnich, A.8
  • 13
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    • Amplification of the E2FI transcription factor gene in the IIEL erythroleukcmia cell line
    • Saito M, Helin K, Valentine M, Griffith B, Willman C, Harlow E, Look T: Amplification of the E2FI transcription factor gene in the IIEL erythroleukcmia cell line. Genomics 25:130-138 (1995).
    • (1995) Genomics , vol.25 , pp. 130-138
    • Saito, M.1    Helin, K.2    Valentine, M.3    Griffith, B.4    Willman, C.5    Harlow, E.6    Look, T.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.