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Article

Screening 500 unselected neurofibromatosis 1 patients for deletions of the <i>NF1</i> gene

9 Jan 2004

Abstract excerpt

A total of 500 unselected unrelated neurofibromatosis 1 (NF1) patients were screened for deletions of the NF1 gene. After excluding 67 patients with known intragenic NF1 mutations, the remaining 433 were genotyped using six intragenic and one distal microsatellite marker for the NF1 gene. A total of 28 patients were hemi- or homozygous for all seven markers and were thus considered as candidates for NF1 deletion...

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PMID: 14722914
DOI: 10.1002/humu.10299

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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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Screening 500 unselected neurofibromatosis 1 patients for deletions of the <i>NF1</i> genePMID 14722914Read ↗

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