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Volumn 7, Issue 4, 1996, Pages 355-357

Pelizaeus-merzbacher disease: A novel mutation in the 5′-untranslated region of the proteolipid protein gene

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MYELIN PROTEIN; PROTEOLIPID;

EID: 0029878858     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)7:4<355::aid-humu10>3.0.co;2-1     Document Type: Article
Times cited : (7)

References (18)
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    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 9807-9811
    • Diehl, H.-J.1    Schaich, M.2    Budzinski, R.-M.3    Stoffel, W.4
  • 3
    • 0026736138 scopus 로고
    • Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease
    • Doll R, Natowicz MR, Schiffmann R, Smith, FI (1992) Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet 51:161-169.
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    • Doll, R.1    Natowicz, M.R.2    Schiffmann, R.3    Smith, F.I.4
  • 4
    • 0028240173 scopus 로고
    • Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease
    • Ellis D, Malcolm S (1994) Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nature Genetics 6:333-334.
    • (1994) Nature Genetics , vol.6 , pp. 333-334
    • Ellis, D.1    Malcolm, S.2
  • 5
    • 0024419974 scopus 로고
    • Pelizaeus-Menbacher disease: An X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein
    • Gencic S, Abuelo D, Ambler M, Hudson LD (1989) Pelizaeus-Menbacher disease: An X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet 45:435-442.
    • (1989) Am J Hum Genet , vol.45 , pp. 435-442
    • Gencic, S.1    Abuelo, D.2    Ambler, M.3    Hudson, L.D.4
  • 6
    • 0024330420 scopus 로고
    • Mutation of proteolipid protein gene PLP in a human X chromosome-linked myelin disorder
    • Hudson LD, Puckett C, Chan JB, Gencic S (1989) Mutation of proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci USA 86:8128-8131.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 8128-8131
    • Hudson, L.D.1    Puckett, C.2    Chan, J.B.3    Gencic, S.4
  • 7
    • 0027394845 scopus 로고
    • A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family
    • Iwaki A, Muramoto T, Iwaki T, Furumi H, Dario-deLeon ML, Tateishi J, Fukumaki Y (1993) A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family. Hum Mol Genet 2:19-22.
    • (1993) Hum Mol Genet , vol.2 , pp. 19-22
    • Iwaki, A.1    Muramoto, T.2    Iwaki, T.3    Furumi, H.4    Dario-deLeon, M.L.5    Tateishi, J.6    Fukumaki, Y.7
  • 8
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    • Sample preparation from blood, cells, and other fluids
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    • Kawasaki ES (1990) Sample preparation from blood, cells, and other fluids. In Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds): PCR Protocols. San Diego: Academic Press, pp 146-152.
    • (1990) PCR Protocols , pp. 146-152
    • Kawasaki, E.S.1
  • 9
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    • A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease
    • Kurosawa K, Iwaki A, Miyake S, Imaizumi K, Kuroki Y, Fukumaki Y (1993) A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease. Hum Mol Genet 2:2188-2189.
    • (1993) Hum Mol Genet , vol.2 , pp. 2188-2189
    • Kurosawa, K.1    Iwaki, A.2    Miyake, S.3    Imaizumi, K.4    Kuroki, Y.5    Fukumaki, Y.6
  • 15
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    • Prema-ture arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage
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    • Readhead, C.1    Schneider, A.2    Griffiths, I.3    Nave, K.-A.4
  • 17
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    • Strautnieks, S.1    Rutland, P.2    Winter, R.M.3    Baraitser, M.4    Malcolm, S.5
  • 18
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    • Pelizaeus-Merzbacher disease: Tight linkage to proteolipid protein gene exon variant
    • Trofatter J, Dlouhy SR, DeMyer W, Conneally PM (1989) Pelizaeus-Merzbacher disease: Tight linkage to proteolipid protein gene exon variant. Proc Natl Acad Sci USA 86:9427-9430.
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    • Trofatter, J.1    Dlouhy, S.R.2    Demyer, W.3    Conneally, P.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.