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Rhizomelic chondrodysplasia punctata: Early recognition with antenatal ultrasonography

โœ Scribed by Peter W. Gendall; C. Emma Baird; David M. O. Becroft


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
399 KB
Volume
22
Category
Article
ISSN
0091-2751

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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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