Identification of a novel PEX14 mutation in Zellweger syndrome. [electronic resource]
Producer: 20080811Description: 376-83 p. digitalISSN:- 1468-6244
- Base Sequence
- DNA Mutational Analysis
- DNA, Intergenic
- Exons -- genetics
- Fibroblasts -- metabolism
- Humans
- Immunoblotting
- Infant
- Liver -- ultrastructure
- Magnetic Resonance Imaging
- Male
- Membrane Proteins -- genetics
- Molecular Sequence Data
- Mutation -- genetics
- Peroxisomes -- metabolism
- Repressor Proteins -- genetics
- Zellweger Syndrome -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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