X-LINKED SPASTIC PARAPLEGIA DUE TO A MUTATION (C506T SER169PHE) IN EXON-4 OF THE PROTEOLIPID PROTEIN GENE (PLP)

Authors
HODES ME HADJISAVVAS A BUTLER IJ AYDANIAN A DLOUHY SR
Citation
Me. Hodes et al., X-LINKED SPASTIC PARAPLEGIA DUE TO A MUTATION (C506T SER169PHE) IN EXON-4 OF THE PROTEOLIPID PROTEIN GENE (PLP), American journal of medical genetics, 75(5), 1998, pp. 516-517
Citations number
13
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
75
Issue
5
Year of publication
1998
Pages
516 - 517
Database
ISI
SICI code
0148-7299(1998)75:5<516:XSPDTA>2.0.ZU;2-#
Abstract
A transition C506T was found in exon 4 of the proteolipid protein gene of a boy with spastic paraplegia. This mutation resulted in the subst itution of phenylalanine for serine 169, which is in the third transme mbrane domain of the proteolipid protein molecule. The mutation appare ntly arose de novo, as it was absent from his mother.