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

Mutation detection and genetic counseling in retinoblastoma using heteroduplex analysis.

Japanese journal of ophthalmology - 1 Jan 1995

Zhang Q, Minoda K

Abstract excerpt

Gene diagnosis is essential for confident presymptomatic prediction, genetic counseling, and early management of hereditary retinoblastoma. In screening the leukocyte DNA of three patients with bilateral retinoblastoma for RB1-gene heterozygous germline mutations, we identified mutations involving exon 3 or 18 of the RB1 gene by using heteroduplex analysis and sequencing. In one case the mutation was a 2 bp GT...

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 Exons
Share to Genetic Counseling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 8926652

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation detection and genetic counseling in retinoblastoma using heteroduplex analysis.PMID 8926652Read ↗

Cell Free DNA (cfDNA) in the Blood of Retinoblastoma Patients The Robert M. Ellsworth Lecture.Semantic proximity Read ↗

Detection of RB germline mutations using exon-by-exon heteroduplex analysis compared with SSCP.Semantic proximity Read ↗

Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in theRB1 geneSemantic proximity Read ↗

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.Semantic proximity Read ↗

Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma.Semantic proximity Read ↗

Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing.Semantic proximity Read ↗

Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.Semantic proximity Read ↗

Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing.Semantic proximity Read ↗

Amplification and characterization of the retinoblastoma gene VNTR by PCR.Semantic proximity Read ↗

A constitutional mutation within the retinoblastoma gene detected by PFGE.Semantic proximity Read ↗

The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.Semantic proximity Read ↗

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

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