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RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
Known as:
RCDP5
National Institutes of Health
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Highly Cited
2015
Highly Cited
2015
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
T. Barøy
,
J. Koster
,
+15 authors
E. Frengen
Human molecular genetics
2015
Corpus ID: 17467224
Import of peroxisomal matrix proteins, crucial for peroxisome biogenesis, is mediated by the cytosolic receptors PEX5 and PEX7…
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