Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion

• Ngā kaituhi matua: Motohiro Sekiya (Author), Takaaki Matsuda (Author), Yuki Yamamoto (Author), Yasuhisa Furuta (Author), Mariko Ohyama (Author), Yuki Murayama (Author), Yoko Sugano (Author), Yoshinori Ohsaki (Author), Hitoshi Iwasaki (Author), Naoya Yahagi (Author), Shigeru Yatoh (Author), Hiroaki Suzuki (Author), Hitoshi Shimano (Author)
• Hōputu: Pukapuka
• I whakaputaina: BMC, 2020-05-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

Abstract Background Renal hypouricemia (RHUC) is a hereditary disorder where mutations in SLC22A12 gene and SLC2A9 gene cause RHUC type 1 (RHUC1) and RHUC type 2 (RHUC2), respectively. These genes regulate renal tubular reabsorption of urates while there exist other genes counterbalancing the net ex...