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

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 excretion...

Descripción completa

Detalles Bibliográficos
Autores principales: Sekiya, Motohiro, Matsuda, Takaaki, Yamamoto, Yuki, Furuta, Yasuhisa, Ohyama, Mariko, Murayama, Yuki, Sugano, Yoko, Ohsaki, Yoshinori, Iwasaki, Hitoshi, Yahagi, Naoya, Yatoh, Shigeru, Suzuki, Hiroaki, Shimano, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201978/
https://www.ncbi.nlm.nih.gov/pubmed/32375679
http://dx.doi.org/10.1186/s12881-020-01031-z

Ejemplares similares

Ejemplares similares