Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis (AIS) causes spinal deformity in 3% of children. Despite a strong genetic basis, few genes have been associated with AIS and the pathogenesis remains poorly understood. In a genome-wide rare variant burden analysis using exome sequence data, we identified fibrillin-1...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Buchan, Jillian G., Alvarado, David M., Haller, Gabe E., Cruchaga, Carlos, Harms, Matthew B., Zhang, Tianxiao, Willing, Marcia C., Grange, Dorothy K., Braverman, Alan C., Miller, Nancy H., Morcuende, Jose A., Tang, Nelson Leung-Sang, Lam, Tsz-Ping, Ng, Bobby Kin-Wah, Cheng, Jack Chun-Yiu, Dobbs, Matthew B., Gurnett, Christina A.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2014
Gaiak:
Association Studies Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4159151/
https://ncbi.nlm.nih.gov/pubmed/24833718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu224
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak