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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6124173/
https://www.ncbi.nlm.nih.gov/pubmed/30283904
http://dx.doi.org/10.1002/jbm4.10044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6124173/
https://www.ncbi.nlm.nih.gov/pubmed/30283904
http://dx.doi.org/10.1002/jbm4.10044

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