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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:G3 (Bethesda)
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Genetics Society of America 2014
Pynciau:
Investigations
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg