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Article

Canavan Disease: Genomic Organization and Localization of Human ASPA to 17p13-ter and Conservation of the ASPA Gene during Evolution

1 May 1994

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8088831
DOI: 10.1006/geno.1994.1278

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Canavan Disease: Genomic Organization and Localization of Human ASPA to 17p13-ter and Conservation of the ASPA Gene during EvolutionPMID 8088831Read ↗

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.Semantic proximity Read ↗

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

Molecular basis of Canavan disease.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 ↗

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

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

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

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

Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.Semantic proximity Read ↗

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

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.Semantic proximity Read ↗

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

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