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Article

Long RT-PCR of the entire 8.5-kb NF1 open reading frame and mutation detection on agarose gels.

Genome research - 1 Jan 1996

Martinez J M, Breidenbach H H, Cawthon R

Abstract excerpt

Previous approaches to mutation detection in mRNA from the neurofibromatosis 1 (NF1) locus have required the PCR amplification of five or more overlapping cDNA segments to screen the entire 8.5-kb open reading frame (ORF). Systematically, these assays do not detect deletions that span the region of overlap (usually 1-3 exons) of any two consecutive target segments. In such cases, amplification from the mutant...

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Identifiers

PMID: 8681140
DOI: 10.1101/gr.6.1.58

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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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