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Analysis of PKD1 and PKD2 Mutations in Pedigrees with ADPKD

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NIAID Data Ecosystem2026-04-25 收录
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https://www.ncbi.nlm.nih.gov/sra/SRP185010
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资源简介:
. Methods: In this study, mutation analysis of PKD1 and PKD2 genes in 9 families were performed using Next generation sequencing. All patients met the diagnostic criteria of ADPKD. Results: Mutations were found in all 9 families in PKD1 gene, comprising 2 novel and 7 previously reported mutations. No mutation in PKD2 were identified.
创建时间:
2020-03-01
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