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...

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Vydáno v:BMC Med Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7201978/
https://ncbi.nlm.nih.gov/pubmed/32375679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01031-z
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