Nonsense mutation in exon 3 of the prote
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Hodes, M. E.; Blank, C. A.; Pratt, V. M.; Morales, J.; Napier, J.; Dlouhy, S. R.
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Article
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1997
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John Wiley and Sons
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English
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We report a GโA transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD). The mutation, which creates a second AluI restriction site, results in a nonsense mutation in PLP. The clinical pictu