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Journal Abstract Search

148 related items for PubMed ID: 1376966

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  • 3. Pelizaeus-Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene.
    Pham-Dinh D, Boespflug-Tanguy O, Mimault C, Cavagna A, Giraud G, Leberre G, Lemarec B, Dautigny A.
    Hum Mol Genet; 1993 Apr; 2(4):465-7. PubMed ID: 7684945
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  • 4. Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.
    Strautnieks S, Rutland P, Winter RM, Baraitser M, Malcolm S.
    Am J Hum Genet; 1992 Oct; 51(4):871-8. PubMed ID: 1384324
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  • 5. New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.
    Pratt VM, Trofatter JA, Larsen MB, Hodes ME, Dlouhy SR.
    Am J Med Genet; 1992 Jun 01; 43(3):642-6. PubMed ID: 1376553
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  • 8. 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.
    Hum Mol Genet; 1993 Dec 01; 2(12):2187-9. PubMed ID: 7509234
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  • 10. Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.
    Trofatter JA, Dlouhy SR, DeMyer W, Conneally PM, Hodes ME.
    Proc Natl Acad Sci U S A; 1989 Dec 01; 86(23):9427-30. PubMed ID: 2480601
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  • 11. Pelizaeus-Merzbacher 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.
    Am J Hum Genet; 1989 Sep 01; 45(3):435-42. PubMed ID: 2773936
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  • 12. Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.
    Pratt VM, Boyadjiev S, Dlouhy SR, Silver K, Der Kaloustian VM, Hodes ME.
    Am J Med Genet; 1995 Feb 13; 55(4):402-4. PubMed ID: 7539212
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  • 15. A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
    Pratt VM, Naidu S, Dlouhy SR, Marks HG, Hodes ME.
    Neurology; 1995 Feb 13; 45(2):394-5. PubMed ID: 7531827
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  • 16. A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.
    Iwaki A, Muramoto T, Iwaki I, Furumi H, Dario-deLeon ML, Tateishi J, Fukumaki Y.
    Hum Mol Genet; 1993 Jan 13; 2(1):19-22. PubMed ID: 7683951
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  • 19. Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene.
    Hodes ME, DeMyer WE, Pratt VM, Edwards MK, Dlouhy SR.
    Am J Med Genet; 1995 Feb 13; 55(4):397-401. PubMed ID: 7539211
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  • 20. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.
    Raskind WH, Williams CA, Hudson LD, Bird TD.
    Am J Hum Genet; 1991 Dec 13; 49(6):1355-60. PubMed ID: 1720927
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