Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
Shimozawa, N
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. [electronic resource] - Journal of medical genetics Oct 1999 - 779-81 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0022-2593
10.1136/jmg.36.10.779 doi
Catalase--metabolism
Child, Preschool
DNA Mutational Analysis
Female
Fibroblasts--enzymology
Fluorescent Antibody Technique
Humans
Infant
Male
Membrane Proteins--genetics
Mutation
Peroxisomal Biogenesis Factor 2
Peroxisomal Disorders--genetics
Phenotype
Temperature
Transfection
Zellweger Syndrome--genetics
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. [electronic resource] - Journal of medical genetics Oct 1999 - 779-81 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0022-2593
10.1136/jmg.36.10.779 doi
Catalase--metabolism
Child, Preschool
DNA Mutational Analysis
Female
Fibroblasts--enzymology
Fluorescent Antibody Technique
Humans
Infant
Male
Membrane Proteins--genetics
Mutation
Peroxisomal Biogenesis Factor 2
Peroxisomal Disorders--genetics
Phenotype
Temperature
Transfection
Zellweger Syndrome--genetics