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

A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.

Journal of medical genetics - 1 Jan 2002

Saviozzi S, Saluto A, Taylor A M, Last J I, Trebini F, Paradiso M C, Grosso E, Funaro A, Ponzio G, Migone N, Brusco A

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adenine
Share to Ataxia Telangiectasia
Share to Genetic Carrier Screening
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Guanine

Share to Mutagenesis, Insertional

Share to Pedigree

Share to Point Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 11826028
DOI: 10.1136/jmg.39.1.57
PMCID: PMC1734960

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.PMID 11826028Read ↗

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.Semantic proximity Read ↗

Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat ExpansionsSemantic proximity Read ↗

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.Semantic proximity Read ↗

ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen.Semantic proximity Read ↗

Inherited ataxias.Semantic proximity Read ↗

Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene.Semantic proximity Read ↗

Ataxia-telangiectasia.Semantic proximity Read ↗

Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.Semantic proximity Read ↗

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutationsSemantic proximity Read ↗

Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutationsSemantic proximity Read ↗

Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.Semantic proximity Read ↗

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A geneSemantic proximity Read ↗

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