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Article

Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.

Clinical genetics - 1 May 2013

Hernández-Imaz E, Campos B, Rodríguez-Álvarez F J, Abad O, Melean G, Gardenyes J, Martín Y, Hernández-Chico C

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease caused by mutations in the NF1 gene. The mutation rate of NF1 is one of the highest known for human genes and the mutational analysis has revealed a wide variety of changes, a significant proportion of which affect normal pre-mRNA splicing. Here, we describe two truncating mutations in exon 37 of NF1, the recurrent c.6792C>A and the novel...

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PMID: 22925204
DOI: 10.1111/j.1399-0004.2012.01952.x

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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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Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.PMID 22925204Read ↗

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