P4HB recurrent missense mutation causing Cole-Carpenter syndrome. (2018)
Attributed to:
High-resolution imaging and time-resolved proteomic profiling of COPII-dependent procollagen packaging.
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1136/jmedgenet-2017-104899
PubMed Identifier: 29263160
Publication URI: http://europepmc.org/abstract/MED/29263160
Type: Journal Article/Review
Volume: 55
Parent Publication: Journal of medical genetics
Issue: 3
ISSN: 0022-2593