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 spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.

Human mutation - 1 Mar 2001

Laccone F, Huppke P, Hanefeld F, Meins M

Abstract excerpt

Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disease. We investigated 125 sporadic cases of Rett syndrome by direct sequencing. Thirty different mutations were found in 97 patients with R...

Read the complete abstract on PubMed

Topics

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

Share to Binding Sites
Share to Chromosomal Proteins, Non-Histone
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Germany

Share to Methyl-CpG-Binding Protein 2

Share to Repressor Proteins

Share to Rett Syndrome

Source

Identifiers

PMID: 11241840
DOI: 10.1002/humu.3

Genes

MECP2
TRD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11241840-2026-09-01.1. 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

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.PMID 11241840Read ↗

Spectrum of MECP2 mutations in Rett syndrome.Semantic proximity Read ↗

MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.Semantic proximity Read ↗

MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.Semantic proximity Read ↗

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.Semantic proximity Read ↗

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.Semantic proximity Read ↗

MECP2 mutations account for most cases of typical forms of Rett syndrome.Semantic proximity Read ↗

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.Semantic proximity Read ↗

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.Semantic proximity Read ↗

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.Semantic proximity Read ↗

Spectrum of MECP2 mutations in Rett syndrome.Semantic proximity Read ↗

Genetic basis of Rett syndrome.Semantic proximity Read ↗

Rett syndrome: from the gene to the disease.Semantic proximity Read ↗

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