Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease

BACKGROUND: Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial. However, the genetic basis for this condition is defined by multiple genes th...

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Detalles Bibliográficos
Autores principales: Zrhidri, Abdelali, Amasdl, Saadia, Lyahyai, Jaber, Elouardi, Hanane, Chkirate, Bouchra, Raymond, Laure, Egéa, Grégory, Taoudi, Mohamed, El Mouatassim, Said, Sefiani, Abdelaziz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615433/
https://www.ncbi.nlm.nih.gov/pubmed/28950892
http://dx.doi.org/10.1186/s12969-017-0200-2

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