Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene

Adv Exp Med Biol. 2003:544:71. doi: 10.1007/978-1-4419-9072-3_10.

Authors

Nobuyuki Shimozawa¹, Tomoko Nagase, Yasuhiko Takemoto, Yasuyuki Suzuki, Naomi Kondo

Affiliation

¹ Department of Pediatrics, Gifu University School of Medicine, Tsukasa-machi 40, Gifu 500-8705, Japan. nshim@cc.gifu-u.ac.jp

PMID: 14713216
DOI: 10.1007/978-1-4419-9072-3_10

No abstract available

MeSH terms

Chondrodysplasia Punctata, Rhizomelic / genetics
Founder Effect
Haplotypes
Humans
Infant, Newborn
Japan
Mutation
Peroxins
Peroxisomal Disorders / genetics*
Receptors, Cytoplasmic and Nuclear / genetics*
Zellweger Syndrome / genetics

Substances

PEX10 protein, human
Peroxins
Receptors, Cytoplasmic and Nuclear