A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chine...
A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family
About this item
Full title
Author / Creator
Han, Yaxin , Wang, Dongming , Guo, Jinli , Xiong, Qiuhong , Li, Ping , Zhou, Yong‐An and Zhao, Bin
Publisher
Bognor Regis: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
Bognor Regis: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Background
Osteogenesis imperfecta (OI), a rare autosomal inheritable disorder characterized by bone fragility and skeletal deformity, is caused by pathogenic variants in genes impairing the synthesis and processing of extracellular matrix protein collagen type I. With the use of next‐generation sequencing and panels approaches, an increasing nu...
Alternative Titles
Full title
A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ab9263a321004cf7908bee44a36d3ff9
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ab9263a321004cf7908bee44a36d3ff9
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1366
