A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1

June Duong; Andrea Rideout; Sara MacKay; Jill Beis; Sandhya Parkash; Ulrike Schwarze; S. Gabrielle Horne; Anthony Vandersteen

doi:10.1016/j.ejmg.2019.103730

A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1

June Duong, Andrea Rideout, Sara MacKay, Jill Beis, Sandhya Parkash, Ulrike Schwarze, S. Gabrielle Horne, Anthony Vandersteen

科研成果: 期刊稿件 › 文章 › 同行评审

11 引用（Scopus）

源语言	英语
文章编号	103730
期刊	European Journal of Medical Genetics
卷	63
期	2
DOI	https://doi.org/10.1016/j.ejmg.2019.103730
出版状态	已出版 - 2月 2020
已对外发布	是

!!!ASJC Scopus Subject Areas

遗传学
遗传学（临床）

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Duong, J., Rideout, A., MacKay, S., Beis, J., Parkash, S., Schwarze, U., Horne, S. G., & Vandersteen, A. (2020). A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1. European Journal of Medical Genetics, 63(2), 文章 103730. https://doi.org/10.1016/j.ejmg.2019.103730

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author = "June Duong and Andrea Rideout and Sara MacKay and Jill Beis and Sandhya Parkash and Ulrike Schwarze and Horne, {S. Gabrielle} and Anthony Vandersteen",

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AU - Schwarze, Ulrike

AU - Horne, S. Gabrielle

AU - Vandersteen, Anthony

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A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1

!!!ASJC Scopus Subject Areas

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