Identification of a novel PEX14 mutation in Zellweger syndrome.

Huybrechts, S J

Identification of a novel PEX14 mutation in Zellweger syndrome. [electronic resource] - Journal of medical genetics Jun 2008 - 376-83 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmg.2007.056697 doi


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