Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

doi:10.1093/hmg/1.9.735

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Article

Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

Human molecular genetics - 1 Dec 1992

Upadhyaya M, Shen M, Cherryson A, Farnham J, Maynard J, Huson S M, Harper P S

Abstract excerpt

A panel of 200 unrelated NF1 individuals has been screened for mutations using a panel of specific clones for the entire gene. DNA analysis on conventional Southern blots indicated that (20) 10% of NF1 patients showed aberrant bands. Small lesions involving nucleotide alterations were detected in...

Topics

Amino Acid Sequence
Base Sequence
Blotting, Southern
Cloning, Molecular
Codon
Cytosine
DNA, Neoplasm
Exons
Genes, Neurofibromatosis 1
Humans
Introns
Molecular Sequence Data
Mutation
Neurofibromatosis 1
Oligodeoxyribonucleotides
Point Mutation
Polymerase Chain Reaction
Thymidine

Source

Open in PubMed

Identifiers

PMID: 1302608
DOI: 10.1093/hmg/1.9.735

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1302608-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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