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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...

Topics

Alleles
Base Sequence
Chromosome Deletion
DNA
DNA Mutational Analysis
Electrophoresis, Agar Gel
Exons
Frameshift Mutation
Genes, Neurofibromatosis 1
Humans
Molecular Sequence Data
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Genetic

Source

Identifiers

PMID: 8225323
DOI: 10.1007/BF01247346

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8225323-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 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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