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Article

A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis.

Molecular genetics and metabolism - 1 Feb 2010

Caliebe A, Vater I, Plendl H, Gesk S, Siebert R, Cremer F W, Klein-Hitpass L

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Share to Amidohydrolases
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Share to Chromosomes, Human, Pair 17
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19932039
DOI: 10.1016/j.ymgme.2009.10.011

Genes

ASPA

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis.PMID 19932039Read ↗

Canavan Disease: Genomic Organization and Localization of Human ASPA to 17p13-ter and Conservation of the ASPA Gene during EvolutionSemantic proximity Read ↗

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.Semantic proximity Read ↗

Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.Semantic proximity Read ↗

[Clinical and genetic analysis of a child with Canavan disease due to compound heterozygous variants of ASPA gene].Semantic proximity Read ↗

A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan DiseaseSemantic proximity Read ↗

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

Novel mutation in an Egyptian patient with infantile Canavan disease.Semantic proximity Read ↗

Molecular basis of Canavan disease.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 ↗

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

Human induced pluripotent stem cell line (SDQLCHi064-A) derived from a patient with Canavan disease carrying c.556_559dup GTTC and c.919delA mutations in the ASPA gene.Semantic proximity Read ↗

Two patients with Canavan disease and structural modeling of a novel mutation.Semantic proximity Read ↗

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