Matsui, Shuji

Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene. [electronic resource] - Brain & development Oct 2013 - 842-8 p. digital

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

1872-7131

10.1016/j.braindev.2012.10.017 doi


Adult
Brain--pathology
Catalase--genetics
Fibroblasts--metabolism
Genetic Predisposition to Disease--genetics
Homozygote
Humans
Lipoproteins--genetics
Male
Membrane Proteins--genetics
Mutation--genetics
Peroxins
Peroxisomal Disorders--diagnosis
Phenotype