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Disease characterization of people with cystic fibrosis and a minimal function mutation: Data from the Italian registry
Pediatric Pulmonology ( IF 2.7 ) Pub Date : 2021-08-06 , DOI: 10.1002/ppul.25616
Donatello Salvatore 1, 2 , Vincenzo Carnovale 2, 3 , Fabio Majo 2, 4 , Rita Padoan 2, 5 , Serena Quattrucci 2, 6 , Marco Salvatore 2, 7 , Domenica Taruscio 2, 7 , Annalisa Amato 2, 6 , Gianluca Ferrari 2, 7 , Giuseppe Campagna 2, 6, 8
Affiliation  

People with cystic fibrosis (pwCF) and a minimal function (MF) mutation are poorly characterized. The aim of this study was to evaluate the disease characteristics of adult and pediatric pwCF with a genotype including an MF mutation on the basis of 2018 data from the Italian CF Registry (ICFR).

中文翻译:

囊性纤维化和最小功能突变患者的疾病特征:来自意大利登记处的数据

患有囊性纤维化 (pwCF) 和最小功能 (MF) 突变的人的特征很差。本研究的目的是根据意大利 CF 登记处 (ICFR) 的 2018 年数据,评估基因型包括 MF 突变的成人和儿童 pwCF 的疾病特征。
更新日期:2021-09-20
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