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

Gootjes, Jeannette

Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver. [electronic resource] - Advances in experimental medicine and biology 2003 - 107-11 p. digital

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

0065-2598

10.1007/978-1-4419-9072-3_15 doi


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