| 一个肺泡微结石症家系中SLC34A2基因的新突变 |
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| 引用本文： | 钟有清,胡成平,蔡兴东,聂华萍. 一个肺泡微结石症家系中SLC34A2基因的新突变[J]. 中华医学遗传学杂志, 2009, 26(4). DOI: 10.3760/cma.j.issn.1003-9406.2009.04.001 |
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| 作者姓名： | 钟有清 胡成平 蔡兴东 聂华萍 |
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| 作者单位： | 中南大学湘雅医院呼吸内科,长沙,410008 |
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| 摘 要： | 子.此外在2例患者及先证者女儿的第2内含子发现一纯合性单核苷酸多态.结论 本家系中患者SLC34A2基因第8外显子出现新的纯合突变,提前出现终止密码子,编码截短蛋白,导致发病.所发现的第2内含子多态性意义有待深入研究.
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| 关 键 词： | 肺泡微结石症 SLC34A2基因 突变 单核苷酸多态性 |
A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis |
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| ZHONG You-qing,HU Cheng-ping,CAI Xing-dong,NIE Hua-ping. A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis[J]. Chinese journal of medical genetics, 2009, 26(4). DOI: 10.3760/cma.j.issn.1003-9406.2009.04.001 |
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| Authors: | ZHONG You-qing HU Cheng-ping CAI Xing-dong NIE Hua-ping |
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| Abstract: | SLC34A2 gene, leading to a premature stop codon therefore a truncated protein, was probably responsible for the PAM in this family. The SNP in intron 2 needs further study. |
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| Keywords: | pulmonary alveolar microlithiasis SLC34A2 gene mutation single nucleotide polymorphism |
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