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

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

American journal of human genetics - 1 May 1997

Bidichandani S I, Ashizawa T, Patel P I

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 Conserved Sequence
Share to Frataxin
Share to Friedreich Ataxia
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Iron-Binding Proteins

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Sequence Homology, Amino Acid

Share to Trinucleotide Repeats

Source

Open in PubMed Open full text

Identifiers

PMID: 9150176
PMCID: PMC1712428

Genes

GAA

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

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.PMID 9150176Read ↗

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

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

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

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.Semantic proximity Read ↗

Mutation detection in an equivocal case of Friedreich's ataxia.Semantic proximity Read ↗

Friedreich's ataxia: Pathology, pathogenesis, and molecular geneticsSemantic proximity Read ↗

Friedreich's ataxia.Semantic proximity Read ↗

[Genetic diagnosis, classification and clinical hereditary ataxia disease entities].Semantic proximity Read ↗

[Triplet repeat expansion associated with genetic diseases].Semantic proximity Read ↗

Clinical features of Friedreich's ataxia: classical and atypical phenotypes.Semantic proximity Read ↗

[Triplet repeat expansions in hereditary neurodegenerative diseases].Semantic proximity Read ↗

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

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