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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:G3 (Bethesda)
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Genetics Society of America 2014
Θέματα:
Investigations
Διαθέσιμο Online: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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