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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:JBMR Plus
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: John Wiley and Sons Inc. 2018
विषय:
Case Reports
ऑनलाइन पहुंच: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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