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Article

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.

Human molecular genetics - 1 Jul 1994

Purandare S M, Lanyon W G, Connor J M

Abstract excerpt

Neurofibromatosis type-1 (NF-1) is an autosomal dominant disorder, caused by mutations in the NF-1 gene. Mutation analysis in the NF-1 gene is complicated by the large size of the gene, the high mutation rate, and the presence of pseudogenes. By means of the polymerase chain reaction, we have amplified 70% of the NF-1 coding sequence using reverse transcribed mRNA and genomic DNA from 25 unrelated Scottish...

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Identifiers

PMID: 7981679
DOI: 10.1093/hmg/3.7.1109

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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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