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Article

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

Human mutation - 1 Jul 2002

Origone Paola, De Luca Alessandro, Bellini Carlo, Buccino Anna, Mingarelli Rita, Costabel Simona, La Rosa Carmen, Garrè Cecilia, Coviello Domenico A, Ajmar Franco, Dallapiccola Bruno, Bonioli Eugenio

Abstract excerpt

The entire NF1 coding region was analyzed for mutations in a panel of 108 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 10 mutations which have never been reported before. Clinical diagnosis of NF1 was established according to the NIH consensus criteria in 100 indi...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 12112660
DOI: 10.1002/humu.9039

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12112660-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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