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Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study

BACKGROUND: Systemic sclerosis (SSc) is a rheumatologic disease with a multifactorial etiology. Genome-wide association studies imply a polygenic, complex mode of inheritance with contributions from variation at the human leukocyte antigen locus and non-coding variation at a locus on chromosome 6p21...

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Detalles Bibliográficos
Autores principales: Cardinale, Christopher J., Li, Dong, Tian, Lifeng, Connolly, John J., March, Michael E., Hou, Cuiping, Wang, Fengxiang, Snyder, James, Kim, Cecilia E., Chiavacci, Rosetta M., Sleiman, Patrick M., Burnham, Jon M., Hakonarson, Hakon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103422/
https://www.ncbi.nlm.nih.gov/pubmed/27829420
http://dx.doi.org/10.1186/s12891-016-1320-4