TY  - GEN
AU  - Shimozawa,N
AU  - Imamura,A
AU  - Zhang,Z
AU  - Suzuki,Y
AU  - Orii,T
AU  - Tsukamoto,T
AU  - Osumi,T
AU  - Fujiki,Y
AU  - Wanders,R J
AU  - Besley,G
AU  - Kondo,N
TI  - Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders
SN  - 0022-2593
PY  - 1999///1119
KW  - Catalase
KW  - metabolism
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Female
KW  - Fibroblasts
KW  - enzymology
KW  - Fluorescent Antibody Technique
KW  - Humans
KW  - Infant
KW  - Male
KW  - Membrane Proteins
KW  - genetics
KW  - Mutation
KW  - Peroxisomal Biogenesis Factor 2
KW  - Peroxisomal Disorders
KW  - Phenotype
KW  - Temperature
KW  - Transfection
KW  - Zellweger Syndrome
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.36.10.779
ER  -