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Journal Abstract Search

121 related items for PubMed ID: 7531827

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  • 5. 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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  • 9. A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease.
    Kawanishi C, Osaka H, Owa K, Inoue K, Miyakawa T, Onishi H, Yamada Y, Suzuki K, Kimura S, Kosaka K.
    Hum Mutat; 1997 Feb 13; 9(5):475-6. PubMed ID: 9143933
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  • 10. 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 13; 45(3):435-42. PubMed ID: 2773936
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  • 11. 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 13; 2(4):465-7. PubMed ID: 7684945
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  • 15. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males.
    Osaka H, Kawanishi C, Inoue K, Uesugi H, Hiroshi K, Nishiyama K, Yamada Y, Suzuki K, Kimura S, Kosaka K.
    Biochem Biophys Res Commun; 1995 Oct 24; 215(3):835-41. PubMed ID: 7488049
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  • 16. Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.
    Doll R, Natowicz MR, Schiffmann R, Smith FI.
    Am J Hum Genet; 1992 Jul 24; 51(1):161-9. PubMed ID: 1376966
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  • 17. 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 24; 86(23):9427-30. PubMed ID: 2480601
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  • 18. A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
    Pratt VM, Trofatter JA, Schinzel A, Dlouhy SR, Conneally PM, Hodes ME.
    Am J Med Genet; 1991 Jan 24; 38(1):136-9. PubMed ID: 1707231
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  • 19. A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.
    Yamamoto T, Nanba E.
    Hum Mutat; 1999 Aug 19; 14(2):182. PubMed ID: 10425042
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  • 20. Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.
    Pratt VM, Boyadjiev S, Green K, Hodes ME, Dlouhy SR.
    Am J Med Genet; 1995 Jul 31; 58(1):70-3. PubMed ID: 7573159
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