Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver.
Gootjes
Jeannette
J
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.
Mandel
Hanna
H
Mooijer
Petra A W
PA
Roels
Frank
F
Waterham
Hans R
HR
Wanders
Ronald J A
RJ
D000293:Adolescent; D002459:Cell Fusion; D002460:Cell Line; D018389:Codon, Nonsense; D005816:Genetic Complementation Test; D006720:Homozygote; D006801:Humans; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009030:Mosaicism; D000074428:Peroxisomal Biogenesis Factor 2; D018901:Peroxisomal Disorders / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
D018389:Codon, Nonsense; D008565:Membrane Proteins; D000074428:Peroxisomal Biogenesis Factor 2