NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome

PURPOSE: To characterize the clinical features of a Chinese pedigree with Blau syndrome and to identify mutations in the NOD2/CARD15 (nucleotide-binding oligomerization domain containing 2/caspase recruitment domain family, member 15) gene. METHODS: Clinical features of this family were evaluated. G...

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Detalles Bibliográficos
Autores principales: Xiang, Haotian, Zhang, Ting, Chen, Mengping, Zhou, Xiaomin, Li, Zhen, Yan, Naihong, Li, Shiguang, Han, Yu, Gong, Qiyong, Liu, Xuyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324354/
https://www.ncbi.nlm.nih.gov/pubmed/22509093

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