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Article

Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

American journal of medical genetics - 15 Jan 2001

Barker D F, Denison J C, Atkin C L, Gregory M C

Abstract excerpt

We have performed effective mutation screening of COL4A5 with a new method of direct, multiplex genomic amplification that employs a single buffer condition and PCR profile. Application of the method to a consecutive series of 46 United States patients with diverse indications of Alport syndrome resulted in detection of mutations in 31 cases and of five previously unreported polymorphisms. With a correction for...

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Identifiers

PMID: 11223851
DOI: 10.1002/1096-8628(20010115)98:2<148::aid-ajmg1024>3.0.co;2-w

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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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