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

Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.

Human mutation - 1 Jan 1994

Abernathy C R, Colman S D, Kousseff B G, Wallace M R

Abstract excerpt

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders, and is due to mutations within the NF1 gene on chromosome 17q11.2. Only the middle 400 amino acids of the associated protein (neurofibromin) have a known function, comprising a GTPase-activating-protein (GAP) domain. The large gene size and the fact that approximately half of cases are due to new mutation render mutation...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Alleles
Share to Base Sequence

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

Share to DNA Mutational Analysis

Share to DNA Primers

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 8081387
DOI: 10.1002/humu.1380030404

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

Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.PMID 8081387Read ↗

A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene.Semantic proximity Read ↗

A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE). Mutation in brief no. 230. Online.Semantic proximity Read ↗

Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.Semantic proximity Read ↗

Ten base pair duplication in exon 38 of the NF1 gene.Semantic proximity Read ↗

Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene.Semantic proximity Read ↗

Exon Skipping as a Therapeutic for Neurofibromatosis Type ISemantic proximity Read ↗

Two independent mutations in a family with neurofibromatosis type 1 (NF1).Semantic proximity Read ↗

Novel mutations involving the NF1 gene coding sequence in neurofibromatosis type 1 patients from Taiwan.Semantic proximity Read ↗

Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.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 ↗

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.Semantic proximity Read ↗

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

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