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Article

Identification and characterization of NF1-related loci on human chromosomes 22, 14 and 2.

Human genetics - 1 Jul 1996

Hulsebos T J, Bijleveld E H, Riegman P H, Smink L J, Dunham I

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a frequent hereditary disorder. The disease is characterized by a very high mutation rate (up to 1/10000 gametes per generation). NF1-related loci in the human genome have been implicated in the high mutation rate by hypothesizing that these carry disease-causing mutations, which can be transferred to the functional NF1 gene on chromosome arm 17q by interchromosomal gene...

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Identifiers

PMID: 8682511
DOI: 10.1007/s004390050151

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

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Identification and characterization of NF1-related loci on human chromosomes 22, 14 and 2.PMID 8682511Read ↗

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