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Mutational screening of PKD1 and PKD2 in Indian ADPKD patients identified 95 genetic variants.

Mutation research - 1 Jan 2000

Raj Sonam, Singh Rana Gopal, Das Parimal

Abstract excerpt

BACKGROUND: Mutation screening of autosomal dominant polycystic kidney disease (ADPKD) cases imply the major involvement of PKD1 mutations in 85% of patients while rest of the cases harbor mutation in PKD2, DNAJB11 and GANAB. This essentially indicates that individual's genotype holds the key for disease susceptibility and its severity. METHODS: For finding genetic variability underlying the disease...

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Identifiers

PMID: 32823016
DOI: 10.1016/j.mrfmmm.2020.111718

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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