A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
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| Description | scientific article published on 28 July 2015 |
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author: Eirik Frengen Janet Koster Merel S. Ebberink Kristine Stadskleiv Sacha Ferdinandusse Hans R Waterham Asbjørn Holmgren |
| Publication date | July 28, 2015 |
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