Phenotypic severity of murine Plp mutants reflects in vivo and in vitro variations in transport of PLP isoproteins.

doi:10.1002/(sici)1098-1136(199708)20:4<322::aid-glia5>3.0.co;2-7

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Article

Phenotypic severity of murine Plp mutants reflects in vivo and in vitro variations in transport of PLP isoproteins.

Glia - 1 Aug 1997

Thomson C E, Montague P, Jung M, Nave K A, Griffiths I R

Abstract excerpt

Mutations of the major myelin gene, proteolipid protein (Plp), cause Pelizaeus-Merzbacher disease and some forms of spastic paraplegia in man and dysmyelinating phenotypes in animals. The clinical severity is markedly heterogeneous, ranging from relatively mild to severe and fatal. Point mutation...

Topics

Animals
Biological Transport, Active
Cell Line
Cricetinae
DNA
Immunohistochemistry
Isomerism
Mice
Mice, Inbred C3H
Mice, Jimpy
Mice, Neurologic Mutants
Mutation
Myelin Proteolipid Protein
Phenotype
Plasmids
Transfection

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