Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia
Hereditary hyperuricemia may occur as part of a syndromic disorder or as an isolated nonsyndromic disease, and over 20 causative genes have been identified. Here, we report the use of whole genome sequencing (WGS) to establish a diagnosis in a family in which individuals were affected with gout, hyp...
| 主要な著者: | , , , , , , , , |
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| その他の著者: | |
| フォーマット: | Journal article |
| 言語: | English |
| 出版事項: |
Wiley
2020
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