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Mutations of FAM111B gene are not associated with Systemic Sclerosis

Systemic sclerosis (SSc) is a prototypic systemic fibrotic disease with unclearly characterized genetic basis. We have discovered that mutations in family with sequence similarity 111, member B (FAM111B) gene cause hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary f...

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Detalles Bibliográficos
Autores principales: Gcelu, A., Deshpande, G., Shaboodien, G., Spracklen, T. F., Kalla, A., Tikly, M., Mayosi, B. M., Hodkinson, B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207758/
https://www.ncbi.nlm.nih.gov/pubmed/30375432
http://dx.doi.org/10.1038/s41598-018-34341-7