Ontology highlight
ABSTRACT:
SUBMITTER: Xiang H
PROVIDER: S-EPMC3324354 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Xiang Haotian H Zhang Ting T Chen Mengping M Zhou Xiaomin X Li Zhen Z Yan Naihong N Li Shiguang S Han Yu Y Gong Qiyong Q Liu Xuyang X
Molecular vision 20120309
<h4>Purpose</h4>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.<h4>Methods</h4>Clinical features of this family were evaluated. Genomic DNA was obtained from blood samples, and all exons of NOD2/CARD15 were amplified by polymerase chain reaction (PCR) and direct DNA sequencing of PCR products was performed for muta ...[more]