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Article

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

Human genetics - 1 Dec 1991

Estivill X, Lázaro C, Casals T, Ravella A

Abstract excerpt

The gene responsible for von Recklinghausen neurofibromatosis (NF1) has recently been identified, and several point mutations and deletions have been described. The availability of intron-exon boundaries of several exons of the NF1 gene facilitates the search for mutations in affected patients. We have analysed 38 patients for mutations in exon 4 of the NF1 gene, and found one patient with a C----T transition at...

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PMID: 1757093
DOI: 10.1007/BF00206069

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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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