Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver

Adv Exp Med Biol. 2003:544:107-11. doi: 10.1007/978-1-4419-9072-3_15.

Authors

Jeannette Gootjes¹, Hanna Mandel, Petra A W Mooijer, Frank Roels, Hans R Waterham, Ronald J A Wanders

Affiliation

¹ Laboratory Genetic Metabolic Diseases and the Department of Pediatrics/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

PMID: 14713221
DOI: 10.1007/978-1-4419-9072-3_15

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Cell Fusion
Cell Line
Codon, Nonsense
Genetic Complementation Test
Homozygote
Humans
Liver / metabolism
Liver / pathology
Male
Membrane Proteins / genetics
Mosaicism*
Peroxisomal Biogenesis Factor 2
Peroxisomal Disorders / genetics*
Peroxisomal Disorders / metabolism
Peroxisomal Disorders / pathology

Substances

Codon, Nonsense
Membrane Proteins
Peroxisomal Biogenesis Factor 2