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A novel nonsense mutation of thePEX7gene in a patient with rhizomelic chondrodysplasia punctata

โœ 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

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