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Article

Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.

Electrophoresis - 1 Oct 1996

Horn D, Robinson P N, Böddrich A, Buske A, Tinschert S, Nürnberg P

Abstract excerpt

We screened a total of 100 unrelated patients with neurofibromatosis type 1 (NF1) for mutations on exons 5 and 8 of the NF1 gene using temperature gradient gel electrophoresis (TGGE). Careful interpretation of exon 5 TGGE patterns was necessary due to interference by an exonic polymorphism. Three novel mutations were identified: a stop mutation in exon 5 (Q239X) caused by a C-->T transition at cDNA nucleotide...

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Identifiers

PMID: 8957181
DOI: 10.1002/elps.1150171011

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

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