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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 en:Hua Xi Kou Qiang Yi Xue Za Zhi
Formato: Artigo
Idioma:Inglês
Publicado: 华西口腔医学杂志编辑部 2019
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Acceso en liña: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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