Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI) is a rare inherited bone dysplasia, which is mainly caused by mutations in genes encoding type I collagen including COL1A1 and COL1A2. It has been well established to identify the classical variants as well as consensus splicing-site-variants in these genes in our previo...

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Bibliographische Detailangaben
Veröffentlicht in:Front Genet
Hauptverfasser: Li, Lulu, Cao, Yixuan, Zhao, Feiyue, Mao, Bin, Ren, Xiuzhi, Wang, Yanzhou, Guan, Yun, You, Yi, Li, Shan, Yang, Tao, Zhao, Xiuli
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2019
Schlagworte:
Genetics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6832110/
https://ncbi.nlm.nih.gov/pubmed/31737030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00979
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