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Article

Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients.

Genes, chromosomes & cancer - 1 Sept 2007

Serra Eduard, Pros Eva, García Carles, López Eva, Gili M Lluïsa, Gómez Carolina, Ravella Anna, Capellá Gabriel, Blanco Ignacio, Lázaro Conxi

Abstract excerpt

The neurofibromatosis type 1 gene has one of the highest mutation rates in humans: about 50% of NF1 patients are de novo cases. Although direct mutation characterization has greatly improved over the past decade, in the context of clinical genetics services worldwide, there is still a significant number of patients for which, while fulfilling NF1 clinical criteria, no constitutive mutation is found at a desired...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 17563086
DOI: 10.1002/gcc.20468

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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