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

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

Human molecular genetics - 1 Apr 1996

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

Abstract excerpt

CpG dinucleotides provide hotspots for transitional mutations in a variety of genes, some leading to genetic diseases in humans. Although this phenomenon is attributed to cytosine methylation at such sites, direct and specific observations of CpG methylation at the sites of recurrent mutations ar...

Topics

Base Sequence
Cytosine
DNA
DNA Primers
Dinucleoside Phosphates
Exons
Female
Genes, Neurofibromatosis 1
Humans
Male
Methylation
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutagenesis, Site-Directed

Mutation

Source

Identifiers

PMID: 8845843
DOI: 10.1093/hmg/5.4.503

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8845843-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31.PMID 8845843Read ↗

NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.Semantic proximity Read ↗

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

Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no. 229. Online.Semantic proximity Read ↗

Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation.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 ↗

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.Semantic 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 ↗

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

Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.Semantic proximity Read ↗

NF1 gene mutations in Japanese with neurofibromatosis 1 (NF1).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 ↗

Two single base polymorphisms in introns 41 and 16 of the NF1 gene.Semantic proximity Read ↗

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