26220973 |
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Westvik, J,
Frengen, E,
Barøy, T,
Holmgren, A,
Walter, J,
Merckoll, E,
Waterham, HR,
Tvedt, B,
Koster, J,
Wanders, RJA,
Stadskleiv, K,
Hughes, T,
Ferdinandusse, S,
Wood, N,
Misceo, D,
Strømme, P,
Woldseth, B,
Ebberink, MS
|
Hum. Mol. Genet. |
2015 |