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Pelizaeus-Merzbacher syndrome: Neurocognitive function in a family with carrier manifestations

✍ Scribed by Michael Marble; Kytja S. Voeller; Melanie M. May; Roger E. Stevenson; Charles E. Schwartz; Richard J. Simensen


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
136 KB
Volume
143A
Category
Article
ISSN
1552-4825

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New variant in exon 3 of the proteolipid
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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