TY  - GEN
AU  - Huybrechts,S J
AU  - Van Veldhoven,P P
AU  - Hoffman,I
AU  - Zeevaert,R
AU  - de Vos,R
AU  - Demaerel,P
AU  - Brams,M
AU  - Jaeken,J
AU  - Fransen,M
AU  - Cassiman,D
TI  - Identification of a novel PEX14 mutation in Zellweger syndrome
SN  - 1468-6244
PY  - 2008///0811
KW  - Base Sequence
KW  - DNA Mutational Analysis
KW  - DNA, Intergenic
KW  - Exons
KW  - genetics
KW  - Fibroblasts
KW  - metabolism
KW  - Humans
KW  - Immunoblotting
KW  - Infant
KW  - Liver
KW  - ultrastructure
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Membrane Proteins
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Peroxisomes
KW  - Repressor Proteins
KW  - Zellweger Syndrome
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2007.056697
ER  -