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A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease

✍ Scribed by Th. Kroepfl; K. Paul; P. Kotanko; B. Plecko; E. Paschke


Book ID
110425999
Publisher
Springer
Year
2003
Tongue
English
Weight
41 KB
Volume
25
Category
Article
ISSN
0141-8955

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We report a G→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