Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3

Published 2011 View Full Article

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Title
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 33, Issue 1, Pages 189-197
Publisher
Wiley
Online
2011-10-12
DOI
10.1002/humu.21623
References
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