Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms.
Muncke
N
N
Wogatzky
B S
BS
Breuning
M
M
Sistermans
E A
EA
Endris
V
V
Ross
M
M
Vetrie
D
D
Catsman-Berrevoets
C E
CE
Rappold
G
G
D001259:Ataxia / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D019457:Chromosome Breakage; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D003001:Cloning, Molecular; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics; D020371:Pelizaeus-Merzbacher Disease / Q000000981:diagnostic imaging / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D014057:Tomography, X-Ray Computed
D008565:Membrane Proteins; D018991:Myelin Proteolipid Protein; C472930:PLP1 protein, human