p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).
作者信息
Salvatore Donatello, Dell'Edera Domenico, Colangelo Carmela, Smaldore Giuseppina
机构信息
Cystic Fibrosis Center, Pediatric Center Bambino Gesù Basilicata, AOR Hospital San Carlo, Potenza, Italy.
Unit of Cytogenetics and Molecular Genetics, Madonna delle Grazie Hospital, Matera, Italy.
出版信息
Int J Urol. 2015 Aug;22(8):803-4. doi: 10.1111/iju.12801. Epub 2015 May 5.
PMID:25944622
Abstract
摘要
Zotero 插件