Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up.

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Serval ID
serval:BIB_B5F8AE6D757E
Type
Article: article from journal or magazin.
Publication sub-type
Letter (letter): Communication to the publisher.
Collection
Publications
Institution
UNIL/CHUV
Title
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up.
Journal
American Journal of Medical Genetics. Part A
Author(s)
C Silveira K., C Bonadia L., Superti-Furga A., R Bertola D., A L Jorge A., P Cavalcanti D.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Publication state
Published
Issued date
2015
Peer-reviewed
Oui
Volume
167
Number
4
Pages
894-901
Language
english
Notes
Publication types: Letter Publication Status: ppublish Document Type: Letter
OAI-PMH
oai:serval.unil.ch:BIB_B5F8AE6D757E
DOI
10.1002/ajmg.a.36954
Pubmed
25735649
Web of science
000352019000038
Create date
28/04/2015 18:02
Last modification date
20/08/2019 16:24
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