A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects
LAMA5 杂合变异可能导致缓慢进展的、黏着斑蛋白增强的家族性局灶节段性肾小球硬化症 (FSGS) 和肺部缺陷。
期刊:JCI Insight
影响因子:6.1
doi:10.1172/jci.insight.158378
Kaimori, Jun-Ya; Kikkawa, Yamato; Motooka, Daisuke; Namba-Hamano, Tomoko; Takuwa, Ayako; Okazaki, Atsuko; Kobayashi, Kaori; Tanigawa, Arisa; Kotani, Yuko; Uno, Yoshihiro; Yoshimi, Kazuto; Hattori, Koki; Asahina, Yuta; Kajimoto, Sachio; Doi, Yohei; Oka, Tatsufumi; Sakaguchi, Yusuke; Mashimo, Tomoji; Sekiguchi, Kiyotoshi; Nakaya, Akihiro; Nomizu, Motoyoshi; Isaka, Yoshitaka