A novel nonsense mutation of thePEX7gene in a patient with rhizomelic chondrodysplasia punctata
โ Scribed by N. Shimozawa; Yasuyuki Suzuki; Zhongyi Zhang; Kiyokuni Miura; Akiko Matsumoto; Masahiro Nagaya; Silvia Castillo-Taucher; Naomi Kondo
- Publisher
- Nature Publishing Group
- Year
- 1999
- Tongue
- English
- Weight
- 93 KB
- Volume
- 44
- Category
- Article
- ISSN
- 1435-232X
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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
Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which le