Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene.

Mutation research - 3 Feb 1997

Rodenhiser D I, Andrews J D, Mancini D N, Jung J H, Singh S M

Abstract excerpt

Neurofibromatosis type 1 (NF1) is among the most common human genetic disorders, having a constellation of cutaneous and skeletal manifestations, intellectual impairment, and an increased risk for a variety of malignancies. The NF1 gene has a high spontaneous mutation rate and is also associated with a variety of sporadic cancers in the general population. While a number of laboratories are involved in a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to CpG Islands

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

Share to Genes, Neurofibromatosis 1

Share to Mutation

Share to Sequence Deletion

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 9042399
DOI: 10.1016/s0027-5107(96)00171-6

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene.PMID 9042399Read ↗

Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs.Semantic proximity Read ↗

Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31.Semantic proximity Read ↗

A compound nucleotide repeat in the neurofibromatosis (NF1) gene.Semantic proximity Read ↗

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defectsSemantic proximity Read ↗

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.Semantic proximity Read ↗

The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion.Semantic proximity Read ↗

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.Semantic proximity Read ↗

NF1 mutation analysis using a combined heteroduplex/SSCP approach.Semantic proximity Read ↗

Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene.Semantic proximity Read ↗

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.Semantic proximity Read ↗

Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.Semantic proximity Read ↗

Analysis of mutations at the neurofibromatosis 1 (NF1) locus.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.