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Article

A deletion in the 5'-region of the neurofibromatosis type 1 (NF1) gene.

Human genetics - 1 Jul 1994

Hoffmeyer S, Assum G, Kaufmann D, Schwenk K, Krone W

Abstract excerpt

A new mutation, the first one close to the 5'-end of the neurofibromatosis type 1 (NF1) gene, was found when RNA preparations from various cell types of 15 NF1 patients were analysed by reverse transcription and subsequent multiplex polymerase chain reaction. This mutation removes the 84 bp of exon 3 precisely from the cDNA. Genomic Southern blots revealed a larger deletion with breakpoints within the introns...

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PMID: 8034304
DOI: 10.1007/BF02272852

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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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