PEX7 encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Mutations in PEX7 cause rhizomelic chondrodysplasia punctata (RCDP), a distinct peroxisome biogenesis disorder. In previous work we described three nov
Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1
β Scribed by Alison M. Motley; Pedro Brites; Lisya Gerez; Eveline Hogenhout; Janet Haasjes; Rob Benne; Henk F. Tabak; Ronald J.A. Wanders; Hans R. Waterham
- Book ID
- 117853826
- Publisher
- American Society of Human Genetics
- Year
- 2002
- Tongue
- English
- Weight
- 563 KB
- Volume
- 70
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/338998
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