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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 a further 10 patients; 5 of these alterations have been fully characterised and are the novel mutations in the NF1...

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Identifiers

PMID: 1302608
DOI: 10.1093/hmg/1.9.735

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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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