Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing
Background/Aims: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited cystic kidney diseases caused by mutations in two large multi-exon genes, PKD1 and PKD2. High allelic heterogeneity and duplication of PKD1 exons 1-32 as six pseudo genes on chromosome 16 compli...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Karger Publishers,
2018-03-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |