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Article

NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

Human genetics - 1 Nov 2003

Colapietro Patrizia, Gervasini Cristina, Natacci Federica, Rossi Livia, Riva Paola, Larizza Lidia

Abstract excerpt

The underestimates of NF1 gene mutations in neurofibromatosis 1 (NF1) have been attributed to the large size of the NF1 gene, the considerable frequency of gross deletions and the common occurrence of splicing defects that are only detectable by cDNA analysis. We here report on a patient with sev...

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PMID: 13680360
DOI: 10.1007/s00439-003-1009-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-13680360-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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