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Article

Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.

Annals of human genetics - 1 Nov 2018

Palma Milla Carmen, Lezana Rosales José Miguel, López Montiel Javier, Andrés Garrido Lucas David, Sánchez Linares Carlos, Carmona Tamajón Sandra, Torres Fernández Carmen, Sánchez González Pablo, Franco Freire Sara, Benito López Carmen, López Siles Juan

Abstract excerpt

Neurofibromatosis type I (NF1) is one of the most common genetic disorders in humans. NF1, a tumor predisposition syndrome, is caused by heterozygous pathogenic variants in the NF1 gene. Molecular genetic testing of NF1 is complex, especially because of the presence of a high number of partial pseudogenes, some of them with a high percentage of sequence identity. In this study, we have analyzed the largest cohort...

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Identifiers

PMID: 30014477
DOI: 10.1111/ahg.12272

Genes

SPRED1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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