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

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...

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Detalhes bibliográficos

Principais autores:	Motohiro Sekiya, Takaaki Matsuda, Yuki Yamamoto, Yasuhisa Furuta, Mariko Ohyama, Yuki Murayama, Yoko Sugano, Yoshinori Ohsaki, Hitoshi Iwasaki, Naoya Yahagi, Shigeru Yatoh, Hiroaki Suzuki, Hitoshi Shimano
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2020-05-01
coleção:	BMC Medical Genetics
Assuntos:	Whole exome analysis Hypouricemia SLC22A12 ABCG2 Impaired insulin secretion HNF1A
Acesso em linha:	http://link.springer.com/article/10.1186/s12881-020-01031-z
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