In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease
Journal Article
·
· American Journal of Medical Genetics
- Indiana Univ. School of Medicine, Indianapolis, IN (United States); and others
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. 11 refs., 3 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 90827
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 55; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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·
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