Two polymorphic mutations (c2331A>C and IVS11+142insAGAAATTTTAAGTCTT) in the human peroxin 1 gene (PEX1).
Preuss
N
N
Department of Pediatrics, Heinrich Heine University Düsseldorf, Germany.
Gärtner
J
J
D000074183:ATPases Associated with Diverse Cellular Activities; D001483:Base Sequence; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D007438:Introns / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D018901:Peroxisomal Disorders / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*
D008565:Membrane Proteins; D000074183:ATPases Associated with Diverse Cellular Activities; C111808:PEX1 protein, human