Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing

Familial cold autoinflammatory syndrome (FCAS) is an extremely rare autosomal dominant inherited disease. Although there are four genes that have been linked with FCAS, its molecular diagnosis has been challenging in a relatively large proportion of cases. In this study, we aimed to investigate the...

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Detalles Bibliográficos
Autores principales: Xia, Xiaoru, Dai, Caijun, Zhu, Xiaochun, Liao, Qiumei, Luo, Xu, Fu, Yangyang, Wang, Liangxing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912109/
https://www.ncbi.nlm.nih.gov/pubmed/27314497
http://dx.doi.org/10.1371/journal.pone.0156981

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912109/
https://www.ncbi.nlm.nih.gov/pubmed/27314497
http://dx.doi.org/10.1371/journal.pone.0156981

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