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

[Direct DNA diagnosis of Friedreich's ataxia].

Casopis lekaru ceskych - 20 Oct 1999

Borský M, Pekarík V, Tvrdíková M, Kozák L

Abstract excerpt

BACKGROUND: Friedreich's ataxia is an autosomal recessive, neurodegenerative disease with a prevalence of 1-2: 100,000. Ninety five % of cases are caused by Friedreich's ataxia expansion of GAA triplet repeat in the first intron of the X25 gene. The gene is mapped on chromosome 9q. The objective...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Friedreich Ataxia
Share to GAA gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Polymerase Chain Reaction

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 10596471

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10596471-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Direct DNA diagnosis of Friedreich's ataxia].PMID 10596471Read ↗

[Friedreich's disease: a real spectrum of clinical manifestations in terms of direct DNA diagnosis].Semantic proximity Read ↗

Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases.Semantic proximity Read ↗

[Molecular genetic diagnosis of Friedreich's ataxia. Ten years experience based on blood sample analysis].Semantic proximity Read ↗

[Late onset Friedreich ataxia: clinical description of a family in Argentina].Semantic proximity Read ↗

[Advances in repeat-primed PCR assay for the genetic diagnosis of dynamic mutation diseases with large pathogenic expansions].Semantic proximity Read ↗

Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman.Semantic proximity Read ↗

New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.Semantic proximity Read ↗

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.Semantic proximity Read ↗

[Fragile X tremor ataxia syndrome (FXTAS): a new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers].Semantic proximity Read ↗

[Presymptomatic DNA diagnosis of spinocerebellar ataxia type 1].Semantic proximity Read ↗

Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.Semantic proximity Read ↗

Friedreich's ataxia. Revision of the phenotype according to molecular genetics.Semantic proximity Read ↗

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