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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Vydáno v:BMC Musculoskelet Disord
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Research Article
On-line přístup: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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