title: In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
abstract: 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.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
authors.forename: D O
authors.initials: DO
authors.lastname: Kleindorfer
authors.forename: S R
authors.initials: SR
authors.lastname: Dlouhy
authors.forename: V M
authors.initials: VM
authors.lastname: Pratt
authors.forename: M C
authors.initials: MC
authors.lastname: Jones
authors.forename: J A
authors.initials: JA
authors.lastname: Trofatter
authors.forename: M E
authors.initials: ME
authors.lastname: Hodes
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009185:Myelin Proteins / Q000235:genetics*; D018991:Myelin Proteolipid Protein; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers; D009185:Myelin Proteins; D018991:Myelin Proteolipid Protein; D004247:DNA