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

doi:10.1002/elps.1150171011

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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...

Topics

Electrophoresis, Polyacrylamide Gel
Exons
Genes, Neurofibromatosis 1
Humans
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
RNA Splicing
RNA, Messenger
Sequence Analysis, DNA
Temperature

Source

Open in PubMed

Identifiers

PMID: 8957181
DOI: 10.1002/elps.1150171011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8957181-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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