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

Molecular analysis of the fragile X syndrome.

Disease markers - 1 Jan 2000

Knight S J, Hirst M C, Davies K E

Abstract excerpt

Carriers of the fragile X mutation possess more than the normal number of copies of a trinucleotide repeat (CGG) within the coding region of a gene designated as FMR-1 in Xq27. The clinical phenotype is determined by the number of copies of the CGG repeat. DNA-based methods for the detection of the fragile X mutation are now available which greatly assist in the genetic diagnosis of this disorder. Direct...

Read the complete abstract on PubMed

Topics

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

Share to Fragile X Mental Retardation Protein
Share to Fragile X Syndrome
Share to Gene Expression

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

Share to Mutation

Share to Nerve Tissue Proteins

Share to RNA-Binding Proteins

Source

Identifiers

PMID: 1424438

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

Molecular analysis of the fragile X syndrome.PMID 1424438Read ↗

Molecular pathology of the fragile X syndrome.Semantic proximity Read ↗

Genetic analysis of fragile X-syndrome.Semantic proximity Read ↗

Advances in molecular analysis of fragile X syndrome.Semantic proximity Read ↗

Molecular analysis of fragile X syndrome.Semantic proximity Read ↗

The fragile X syndrome.Semantic proximity Read ↗

Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.Semantic proximity Read ↗

The fragile X syndrome: implications of molecular genetics for the clinical syndrome.Semantic proximity Read ↗

The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.Semantic proximity Read ↗

Fragile X syndrome.Semantic proximity Read ↗

Fragile X syndrome: molecular analysis reveals a new mechanism of mutation in human genetic diseases.Semantic proximity Read ↗

Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation.Semantic proximity Read ↗

Clinical aspects of the fragile X syndrome.Semantic proximity Read ↗

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