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- W2004995055 abstract "A C → G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-Merzbacher disease (PMD). The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonuclease cleavage site. It is concordant with the disease in this family. One-hundred-ten unrelated X chromosomes are negative for this mutation. No other sequence defect was found in the PLP exons of the affected males. The cause of disease in this family remains unknown, but the association between this rare mutation and PMD is intriguing. The mutation can serve as a marker for following segregation of the PLP gene." @default.
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- W2004995055 date "1992-06-01" @default.
- W2004995055 modified "2023-10-12" @default.
- W2004995055 title "New variant in exon 3 of the proteolipid protein (PLP) gene in a family with pelizaeus-merzbacher disease" @default.
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- W2004995055 doi "https://doi.org/10.1002/ajmg.1320430335" @default.
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