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Pelizaeus-merzbacher disease: Clinical and DNA-linkage study of an extended family

โœ Scribed by Johnson, Virginia P. ;Carpenter, Nancy J. ;Alan Kelts, K.


Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
719 KB
Volume
41
Category
Article
ISSN
0148-7299

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Nonsense mutation in exon 3 of the prote
โœ Hodes, M. E.; Blank, C. A.; Pratt, V. M.; Morales, J.; Napier, J.; Dlouhy, S. R. ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 180 KB ๐Ÿ‘ 2 views

We report a Gโ†’A 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