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Journal Abstract Search


197 related items for PubMed ID: 7539211

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  • 3. 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; 38(1):136-9. PubMed ID: 1707231
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  • 4. [Pelizaeus-Merzbacher disease].
    Koetsveld-Baart JC, Glaudemans-van Gelderen IE, Valk J, Barth PG.
    Ned Tijdschr Geneeskd; 1993 Nov 27; 137(48):2494-8. PubMed ID: 8272126
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  • 9. Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA.
    Bridge PJ, MacLeod PM, Lillicrap DP.
    Am J Med Genet; 1991 Mar 15; 38(4):616-21. PubMed ID: 1676565
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  • 10. A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
    Seeman P, Paderova K, Benes V, Sistermans EA.
    Int J Mol Med; 2002 Feb 15; 9(2):125-9. PubMed ID: 11786921
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  • 14. Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studies.
    Kaye EM, Doll RF, Natowicz MR, Smith FI.
    Ann Neurol; 1994 Dec 15; 36(6):916-9. PubMed ID: 7998780
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  • 18. Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.
    Pratt VM, Dlouhy SR, Hodes ME.
    Clin Genet; 1995 Feb 15; 47(2):99-100. PubMed ID: 7541731
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  • 20. 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 15; 45(3):435-42. PubMed ID: 2773936
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