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Article

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes.

Human genetics - 1 Jan 1992

Stephens K, Kayes L, Riccardi V M, Rising M, Sybert V P, Pagon R A

Abstract excerpt

An interesting feature of neurofibromatosis type 1 (NF1) is its high mutation rate of 1 x 10(-4) per gamete per generation. The molecular basis for frequent NF1 mutation in unknown; the gene is not deletion prone. We have found that in all ten families examined, the apparent new NF1 mutation occurred on the paternally-derived chromosome. The probability of observing this result by chance is less than 0.001...

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Source

Identifiers

PMID: 1346385
DOI: 10.1007/BF00197259

Genes

NF1

Provenance

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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