Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis

Idiopathic scoliosis occurs in 3% of individuals and has an unknown etiology. The objective of this study was to identify rare variants that contribute to the etiology of idiopathic scoliosis by using exome sequencing in a multigenerational family with idiopathic scoliosis. Exome sequencing was comp...

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發表在:G3 (Bethesda)
Main Authors: Baschal, Erin E., Wethey, Cambria I., Swindle, Kandice, Baschal, Robin M., Gowan, Katherine, Tang, Nelson L.S., Alvarado, David M., Haller, Gabe E., Dobbs, Matthew B., Taylor, Matthew R.G., Gurnett, Christina A., Jones, Kenneth L., Miller, Nancy H.
格式: Artigo
語言:Inglês
出版: Genetics Society of America 2014
主題:
Investigations
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4321025/
https://ncbi.nlm.nih.gov/pubmed/25504735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.114.015669
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