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Article

A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene.

Human genetics - 1 Oct 1993

Shen M H, Upadhyaya M

Abstract excerpt

We have screened a total of 105 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exon 28 of the NF1 gene using heteroduplex analysis and single strand conformation polymorphism analysis. One novel mutation has been identified and characterised. This mutation involves a 13-bp deletion (AAACTGGCTGAGC or AACTGGCTGAGCA) from base position 5077 (or 5078) to 5089 (or 5090) of the cDNA coding...

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Identifiers

PMID: 8225323
DOI: 10.1007/BF01247346

Genes

NF1

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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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A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene.PMID 8225323Read ↗

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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defectsSemantic proximity Read ↗

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