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Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation
Noguchi, Masafumi, Honsho, Masanori, Abe, Yuichi, Toyama, Ryusuke, Niwa, Hajime, Sato, Yoshiteru, Ghaedi, Kamran, Rahmanifar, Ali, Shafeghati, Yousef, Fujiki, YukioVolume:
59
Language:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2014.39
Date:
July, 2014
File:
PDF, 1.00 MB
english, 2014