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

UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis.

American journal of medical genetics. Part A - 30 Apr 2004

Rapakko Katrin, Kokkonen Hannaleena, Leisti Jaakko

Abstract excerpt

Angelman syndrome (AS) is a neurogenetic disorder associated with a loss of maternal gene expression in chromosome region 15q11-q13 due to either maternal deletion, paternal uniparental disomy (UPD), imprinting mutation, or mutation in the UBE3A gene. UBE3A encodes an ubiquitin-protein ligase and...

Read the complete abstract on PubMed

Topics

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

Share to Angelman Syndrome
Share to Chromosomes, Human, Pair 15
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophoresis

Share to Finland

Share to Nucleic Acid Conformation

Share to Polymorphism, Single-Stranded Conformational

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 15054837
DOI: 10.1002/ajmg.a.20587

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15054837-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis.PMID 15054837Read ↗

The spectrum of mutations in UBE3A causing Angelman syndrome.Semantic proximity Read ↗

Mutation analysis of UBE3A in Angelman syndrome patients.Semantic proximity Read ↗

UBE3A/E6-AP mutations cause Angelman syndrome.Semantic proximity Read ↗

Molecular and Clinical Aspects of Angelman SyndromeSemantic proximity Read ↗

Atypical cases of Angelman syndrome.Semantic proximity Read ↗

Screening of UBE3A gene in patients referred for Angelman Syndrome.Semantic proximity Read ↗

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.Semantic proximity Read ↗

Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A.Semantic proximity Read ↗

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.Semantic proximity Read ↗

Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.Semantic proximity Read ↗

Clinical and Genetic Characterization of Angelman Syndrome in a Chinese Cohort: UBE3A Variant Spectrum Expansion and Utility of Long-read SequencingSemantic proximity Read ↗

Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.Semantic proximity Read ↗

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