Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress
Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress
About this item
Full title
Author / Creator
El‐Gazzar, Ahmed , Voraberger, Barbara , Rauch, Frank , Mairhofer, Mario , Schmidt, Katy , Guillemyn, Brecht , Mitulović, Goran , Reiterer, Veronika , Haun, Margot , Mayr, Michaela M , Mayr, Johannes A , Kimeswenger, Susanne , Drews, Oliver , Saraff, Vrinda , Shaw, Nick , Fratzl‐Zelman, Nadja , Symoens, Sofie , Farhan, Hesso and Högler, Wolfgang
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass generally caused by defects in type I collagen structure or defects in proteins interacting with collagen processing. We identified a homozygous missense mutation in
SEC16B
in a child with vertebral fractur...
Alternative Titles
Full title
Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress
Authors, Artists and Contributors
Author / Creator
Voraberger, Barbara
Rauch, Frank
Mairhofer, Mario
Schmidt, Katy
Guillemyn, Brecht
Mitulović, Goran
Reiterer, Veronika
Haun, Margot
Mayr, Michaela M
Mayr, Johannes A
Kimeswenger, Susanne
Drews, Oliver
Saraff, Vrinda
Shaw, Nick
Fratzl‐Zelman, Nadja
Symoens, Sofie
Farhan, Hesso
Högler, Wolfgang
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_603d086eb1764c1e9cd37e1a82cb581f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_603d086eb1764c1e9cd37e1a82cb581f
Other Identifiers
ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.15252/emmm.202216834
