A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease
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Overview
publication date
- September 1998
has subject area
- 0604 Genetics (FoR)
- 1103 Clinical Sciences (FoR)
- Diffuse Cerebral Sclerosis of Schilder (MeSH)
- Exons (MeSH)
- Genetics & Heredity (Science Metrix)
- Humans (MeSH)
- Infant (MeSH)
- Male (MeSH)
- Myelin Proteolipid Protein (MeSH)
- Point Mutation (MeSH)
published in
- Clinical Genetics Journal