Whole‐Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI

The heritable disorder osteogenesis imperfecta (OI) is characterized by bone fragility and low bone mass. OI type VI is an autosomal recessive form of the disorder with moderate to severe bone fragility. OI type VI is caused by mutations in the serpin peptidase inhibitor, clade F, member 1 (SERPINF1...

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Detalhes bibliográficos
Publicado no:JBMR Plus
Main Authors: Jin, Zixue, Burrage, Lindsay C, Jiang, Ming‐Ming, Lee, Yi‐Chien, Bertin, Terry, Chen, Yuqing, Tran, Alyssa, Gibbs, Richard A, Jhangiani, Shalini, Sutton, V Reid, Rauch, Frank, Lee, Brendan, Jain, Mahim
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6124173/
https://ncbi.nlm.nih.gov/pubmed/30283904
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbm4.10044
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