Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects

BACKGROUND: To identify potential causative mutations in SLC2A9 and SLC22A12 that lead to hypouricemia or hyperuricemia (HUA). METHODS: Targeted resequencing of whole exon regions of SLC2A9 and SLC22A12 was performed in three cohorts of 31 hypouricemia, 288 HUA and 280 normal controls. RESULTS: A to...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Genomic Med
Päätekijät: Zhou, Zhaowei, Wang, Ke, Zhou, Juan, Wang, Can, Li, Xinde, Cui, Lingling, Han, Lin, Liu, Zhen, Ren, Wei, Wang, Xuefeng, Zhang, Keke, Li, Zhiqiang, Pan, Dun, Li, Changgui, Shi, Yongyong
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2019
Aiheet:
Original Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625124/
https://ncbi.nlm.nih.gov/pubmed/31131560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.722
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