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Article

Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).

BMC medical genetics - 3 Feb 2004

Thongnoppakhun Wanna, Limwongse Chanin, Vareesangthip Kriengsak, Sirinavin Chintana, Bunditworapoom Duangkamon, Rungroj Nanyawan, Yenchitsomanus Pa-thai

Abstract excerpt

BACKGROUND: We have previously developed a long RT-PCR method for selective amplification of full-length PKD1 transcripts (13.6 kb) and a long-range PCR for amplification in the reiterated region (18 kb) covering exons 14 and 34 of the PKD1 gene. These have provided us with an opportunity to study PKD1 mutations especially in its reiterated region which is difficult to examine. In this report, we have further...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 15018634
DOI: 10.1186/1471-2350-5-2
PMCID: PMC356914

Genes

PKD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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