title: A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.
authors.forename: M E
authors.initials: ME
authors.lastname: Hodes
authors.forename: A
authors.initials: A
authors.lastname: Aydanian
authors.forename: S R
authors.initials: SR
authors.lastname: Dlouhy
authors.forename: D T
authors.initials: DT
authors.lastname: Whelan
authors.forename: T
authors.initials: T
authors.lastname: Heshka
authors.forename: G
authors.initials: G
authors.lastname: Ronen
mesh_terms: D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005091:Exons; D006801:Humans; D007223:Infant; D008297:Male; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D017354:Point Mutation
chemical_list: D018991:Myelin Proteolipid Protein