Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene.
Shimozawa
Nobuyuki
N
Department of Pediatrics, Gifu University School of Medicine, Tsukasa-machi 40, Gifu 500-8705, Japan. nshim@cc.gifu-u.ac.jp
Nagase
Tomoko
T
Takemoto
Yasuhiko
Y
Suzuki
Yasuyuki
Y
Kondo
Naomi
N
D018902:Chondrodysplasia Punctata, Rhizomelic / Q000235:genetics; D018703:Founder Effect; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D009154:Mutation; D000074401:Peroxins; D018901:Peroxisomal Disorders / Q000235:genetics*; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D015211:Zellweger Syndrome / Q000235:genetics
C116156:PEX10 protein, human; D000074401:Peroxins; D018160:Receptors, Cytoplasmic and Nuclear