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一个掌跖角化-牙周破坏综合征患者家系组织蛋白酶C基因突变分析
OBJECTIVE: This study aimed to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS) and further confirm the genetic basis for the phenotype of PLS. METHODS: Peripheral blood samples were obtained from the PLS proband and...
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| Publicado no: | Hua Xi Kou Qiang Yi Xue Za Zhi |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
华西口腔医学杂志编辑部
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7030725/ https://ncbi.nlm.nih.gov/pubmed/30854815 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7518/hxkq.2019.01.006 |
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