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Article

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

Human mutation - 1 Sept 2008

Pros Eva, Gómez Carolina, Martín Thamar, Fábregas Pere, Serra Eduard, Lázaro Conxi

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder caused by mutations in the NF1 gene. In this paper we report our experience using the cDNA-SSCP/HD analysis as a mutational screening approach and the double characterization of all mutations at the DNA and RNA levels....

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Identifiers

PMID: 18546366
DOI: 10.1002/humu.20826

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18546366-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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