CORE
🇺🇦Â
 make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Filters
2 research outputs found
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V
Author
A Forlino
Aideen M McInerney-Leo
+38Â more
AM Fassier
Andreas Zankl
Barbra V Cavan
Craig F Munns
David Sillence
DO Sillence
DY Lee
E Daley
EM Shore
Emma L Duncan
F Fleming
F Rauch
FH Glorieux
Fiona A McKenzie
FS Van Dijk
Gareth Baynam
Gethin Thomas
Johannes Egbertus Hans Pruijs
JR Shapiro
Karena Pryce
L Zeitlin
M Balasubramanian
M Grover
M Takagi
Matthew A Brown
ML Warman
MS Cheung
N Hanagata
O Semler
P Moffatt
Paulien A Terhal
R Smith
RJ Bauze
Stephanie Broley
Syndia Lazarus
TJ Cho
WH Battle
Y Liu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Full text link
Crossref
PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing
Author
Barbra Charina V. Cavan
Grace M. Hobson
+5Â more
James Y. Garbern
Jennifer R. Taube
Karen Sperle
Linda Banser
Pavel Seeman
Publication venue
'Oxford University Press (OUP)'
Publication date
Field of study
No full text
Crossref