@article {Ĵ{\ “○} nsson1900806，作者= {Ĵ{\” ○} nsson，{\ R A} SA丽娜M.和Bendstrup，伊丽莎白和莫根森，苏西和Kopras，伊丽莎白J.和麦科马克，弗朗西斯X，和坎波，Ilaria的马里亚尼和，弗朗西斯和埃斯克里瓦诺 - 蒙塔内尔，安帕罗和霍尔姆，是M.和马丁内斯Colls，玛丽亚del Mar的和Pintos - 莫雷尔，纪莲和Taill {\'E}，卡米尔和Crestani，布鲁诺和希尔伯格，奥莱和Hvarregaard克里斯坦森，简并西蒙森，乌尔夫}，标题= {八个新颖的SLC34A2基因变体在肺泡微}，体积= {55}，数= {2}，elocation-ID = {1900806}，年= {2020}，DOI = {10.1183 / 13993003.00806-2019}，出版商= {欧洲呼吸协会}188bet官网地址，抽象= {背景肺泡微（PAM）通过在SLC34A2基因，其编码的钠依赖性磷酸遗传变异体引起的转运蛋白2B（的NaPi-2b）中。PAM的特征在于导致肺功能障碍肺泡磷酸钙结核（石器）的沉积。SLC34A2的变型谱还没有得到很好的调查，现在还不知道是否基因型{\ textendash}表型相关exists.Methods我们收集了DNA来自14例PAM和4位亲人，并分析了SLC34A2的编码区通过直接DNA测序。为了确定表型特征，收集临床资料和严重度评分对每个变种创建的基础上，protein.Results我们确定了14例PAM SLC34A2八个新的等位基因变异体中的类型和定位。这四个都是废话变种，三个人都是错义，一个是剪接位点变异体。 One patient was heterozygous for two different variants and all other patients were homozygous. Four patients were asymptomatic and 10 patients were symptomatic. The severity of the disease was associated with the variant severity.Conclusions Our findings support a significant role for SLC34A2 in PAM and expand the variant spectrum of the disease. Thus, SLC34A2 variants were detected in all patients and eight novel allelic variants were discovered. An association between disease severity and the severity of the variants was found; however, this needs to be investigated in larger patient populations.Eight novel variants in the SLC34A2 gene have been identified in 14 patients with pulmonary alveolar microlithiasis (PAM), which emphasises the importance of the gene in the disease. Furthermore, a genotype{\textendash}phenotype correlation in PAM may exist. http://bit.ly/3307M1p}, issn = {0903-1936}, URL = {//www.qdcxjkg.com/content/55/2/1900806}, eprint = {//www.qdcxjkg.com/content/55/2/1900806.full.pdf}, journal = {European Respiratory Journal} }