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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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Detaylı Bibliyografya
Yayımlandı:BMC Musculoskelet Disord
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2016
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5103422/
https://ncbi.nlm.nih.gov/pubmed/27829420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12891-016-1320-4
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