Article
X-linked Alport syndrome caused by splicing mutations in COL4A5.
Clinical journal of the American Society of Nephrology : CJASN - 7 Nov 2014
Nozu Kandai, Vorechovsky Igor, Kaito Hiroshi, Fu Xue Jun, Nakanishi Koichi, Hashimura Yuya, Hashimoto Fusako, Kamei Koichi, Ito Shuichi, Kaku Yoshitsugu, Imasawa Toshiyuki, Ushijima Katsumi, Shimizu Junya, Makita Yoshio, Konomoto Takao, Yoshikawa Norishige, Iijima Kazumoto
Abstract excerpt
BACKGROUND AND OBJECTIVES: X-linked Alport syndrome is caused by mutations in the COL4A5 gene. Although many COL4A5 mutations have been detected, the mutation detection rate has been unsatisfactory. Some men with X-linked Alport syndrome show a relatively mild phenotype, but molecular basis investigations have rarely been conducted to clarify the underlying mechanism. DESIGN, SETTING, PARTICIPANTS, &...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.