Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. [electronic resource]
- American journal of human genetics Aug 2003
- 233-46 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0002-9297
10.1086/377004 doi
Amino Acid Sequence Animals CHO Cells Catalase--metabolism Cell Line Cricetinae DNA--genetics DNA Mutational Analysis Female Gene Expression Genetic Complementation Test Genotype Humans Membrane Proteins--deficiency Mice Molecular Sequence Data Mutation Peroxisomal Disorders--classification Peroxisome-Targeting Signal 1 Receptor Phenotype Pregnancy RNA, Messenger--genetics Receptors, Cytoplasmic and Nuclear--metabolism Sequence Homology, Amino Acid Temperature Tissue Distribution Transfection Zellweger Syndrome--genetics