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In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease |
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| Authors: | Dawn Olson Kleindorfer Stephen R. Dlouhy Victoria M. Pratt Marylin C. Jones James A. Trofatter M. E. Hodes |
| Affiliation: | Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana |
| Abstract: | We describe an in-frame deletion of parts of exons 3 and 4 of the proteolipid protein gene (PLP), with all of the intervening sequence, in a 3-generation family with Pelizaeus-Merzbacher disease. The mutation removes 49 amino acids of the PLP. © 1995 Wiley-Liss, Inc. |
| Keywords: | dysmyelinating disorder central nervous system point mutation |