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

Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease.

Clinical genetics - 1 Mar 2008

Velinov M, Zellers N, Styles J, Wisniewski K

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 Alanine
Share to Amidohydrolases
Share to Amino Acid Substitution
Share to Aspartic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Glycine

Share to Homozygote

Share to Magnetic Resonance Imaging

Source

Identifiers

PMID: 18070137
DOI: 10.1111/j.1399-0004.2007.00934.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease.PMID 18070137Read ↗

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.Semantic proximity Read ↗

A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.Semantic proximity Read ↗

A novel aspartoacylase (ASPA) gene mutation in Canavan disease.Semantic proximity Read ↗

Mild‐onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase geneSemantic proximity Read ↗

[Canavan disease (aspartoacylase deficiency)].Semantic proximity Read ↗

[Canavan disease (aspartoacylase deficiency)].Semantic proximity Read ↗

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.Semantic proximity Read ↗

The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.Semantic proximity Read ↗

Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish Population.Semantic proximity Read ↗

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.Semantic proximity Read ↗

Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.Semantic proximity Read ↗

Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.Semantic proximity Read ↗

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