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Article

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

Journal of medical genetics - 1 Jun 1998

Rasmussen S A, Colman S D, Ho V T, Abernathy C R, Arn P H, Weiss L, Schwartz C, Saul R A, Wallace M R

Abstract excerpt

A set of neurofibromatosis type 1 (NF1) patients was screened for large NF1 gene deletions by comparing patient and parent genotypes at 10 intragenic polymorphic loci. Of 67 patient/parent sets (47 new mutation patients and 20 familial cases), five (7.5%) showed loss of heterozygosity (LOH), indicative of NF1 gene deletion. These five patients did not have severe NF1 manifestations, mental retardation, or...

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

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Identifiers

PMID: 9643287
DOI: 10.1136/jmg.35.6.468
PMCID: PMC1051340

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Source receipt: pubmed, retrieved 7 Sept 2026.

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