Search

Your search keyword '"Dlouhy, S R"' showing total 3 results
Start Over Author "Dlouhy, S R" Journal clinical genetics
3 results on '"Dlouhy, S R"'

3. Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.

Author

Pratt VM, Dlouhy SR, and Hodes ME

Subjects
Base Sequence, Child, Electrophoresis, Polyacrylamide Gel, Genes, Humans, Male, Molecular Sequence Data, Myelin Proteolipid Protein, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, X Chromosome, Diffuse Cerebral Sclerosis of Schilder genetics, Exons genetics, Myelin Proteins genetics, Point Mutation
Abstract

Pelizaeus-Merzbacher disease has been known since 1885. It is characterized by severe dysmyelination of the central nervous system. We describe a new mutation in exon 6 of the proteolipid protein gene in a 9-year-old boy with severe connatal Pelizaeus-Merzbacher disease.

Published
1995
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results