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Pelizaeus-Merzbacher Disease: Tight Linkage to Proteolipid Protein Gene Exon Variant

✍ Scribed by James A. Trofatter, Stephen R. Dlouhy, William DeMyer, P. Michael Conneally and M. E. Hodes

Book ID
123637574
Publisher
National Academy of Sciences
Year
1989
Tongue
English
Weight
868 KB
Volume
86
Category
Article
ISSN
0027-8424

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New variant in exon 3 of the proteolipid
New variant in exon 3 of the proteolipid protein (PLP) gene in a family with pelizaeus-merzbacher disease
✍ Pratt, Victoria M. ;Trofatter, James A. ;Larsen, Marianne B. ;Hodes, M. E. ;Dlou πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 357 KB πŸ‘ 2 views

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 endonucleas