A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

Genetic factors predictive of severe adolescent idiopathic scoliosis (AIS) are largely unknown. To identify genetic variation associated with severe AIS, we performed an exome-wide association study of 457 severe AIS cases and 987 controls. We find a missense SNP in SLC39A8 (p.Ala391Thr, rs13107325)...

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Detalles Bibliográficos
Autores principales: Haller, Gabe, McCall, Kevin, Jenkitkasemwong, Supak, Sadler, Brooke, Antunes, Lilian, Nikolov, Momchil, Whittle, Julia, Upshaw, Zachary, Shin, Jimann, Baschal, Erin, Cruchaga, Carlos, Harms, Matthew, Raggio, Cathleen, Morcuende, Jose A., Giampietro, Philip, Miller, Nancy H., Wise, Carol, Gray, Ryan S., Solnica-Krezel, Lila, Knutson, Mitchell, Dobbs, Matthew B., Gurnett, Christina A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177404/
https://www.ncbi.nlm.nih.gov/pubmed/30301978
http://dx.doi.org/10.1038/s41467-018-06705-0

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