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Article

Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing.

Acta dermato-venereologica - 1 Nov 2014

Uusitalo Elina, Hammais Anna, Palonen Elina, Brandt Annika, Mäkelä Ville-Veikko, Kallionpää Roope, Jouhilahti Eeva-Mari, Pöyhönen Minna, Soini Juhani, Peltonen Juha, Peltonen Sirkku

Abstract excerpt

Neurofibromatosis type 1 syndrome (NF1) is caused by mutations in the NF1 gene. Availability of new sequencing technology prompted us to search for an alternative method for NF1 mutation analysis. Genomic DNA was isolated from saliva avoiding invasive sampling. The NF1 exons with an additional 50...

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PMID: 24676424
DOI: 10.2340/00015555-1843

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24676424-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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