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

Abstract 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. Result...

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Detalhes bibliográficos

Principais autores:	Zhaowei Zhou, Ke Wang, Juan Zhou, Can Wang, Xinde Li, Lingling Cui, Lin Han, Zhen Liu, Wei Ren, Xuefeng Wang, Keke Zhang, Zhiqiang Li, Dun Pan, Changgui Li, Yongyong Shi
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2019-07-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	hypouricemia next‐generation sequencing (NGS) rare variants SLC22A12 SLC2A9
Acesso em linha:	https://doi.org/10.1002/mgg3.722
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