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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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]