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

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Bibliographic Details
Title: Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI.
Authors: Jin Z; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Burrage LC; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.; Texas Children's Hospital Houston TX USA., Jiang MM; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Lee YC; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Bertin T; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Chen Y; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Tran A; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine Houston TX USA., Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine Houston TX USA., Sutton VR; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Rauch F; Shriners Hospital for Children and McGill University Montreal Canada., Lee B; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Jain M; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.; Kennedy Krieger Institute Baltimore MD USA.
Source: JBMR plus [JBMR Plus] 2018 Apr 16; Vol. 2 (4), pp. 235-239. Date of Electronic Publication: 2018 Apr 16 (Print Publication: 2018).
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2473-4039
DOI:10.1002/jbm4.10044