Llwytho...
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review
BACKGROUND: Renal hypouricemia (RHUC) is a heterogeneous genetic disorder that is characterized by decreased serum uric acid concentration and increased fractional excretion of uric acid. Previous reports have revealed many functional mutations in two urate transporter genes, SLC22A12 and/or SLC2A9,...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | BMC Med Genet |
|---|---|
| Prif Awduron: | , , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BioMed Central
2018
|
| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6086067/ https://ncbi.nlm.nih.gov/pubmed/30097038 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0595-8 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|