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
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| Published in: | Molecular genetics and metabolism Vol. 99; no. 2; pp. 184 - 185 |
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| Main Authors: | , , , , , , |
| Format: | Journal Article |
| Language: | English |
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Elsevier Inc
01-02-2010
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| Author | Klein-Hitpass, L. Caliebe, A. Plendl, H. Vater, I. Siebert, R. Gesk, S. Cremer, F.W. |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/19932039$$D View this record in MEDLINE/PubMed |
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| Copyright | 2009 Elsevier Inc. |
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| Keywords | Canavan disease SNP array Homozygous deletion |
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| References | Sistermans, de Coo, van Beerendonk, Poll-The, Kleijer, van Oost (bib2) 2000; 8 Kaya, Imtiaz, Colak, Al-Sayed, Al-Odaib, Al-Zahrani, Al-Mubarak, Al-Owain, Al-Dhalaan, Ozand, Meyer (bib4) 2008; 10 Tahmaz, Sam, Hoganson, Quan (bib1) 2001 Zeng, Wang, Torres, Pastores, Leone, Raghavan, Kolodny (bib3) 2006; 89 |
| References_xml | – volume: 10 start-page: 675 year: 2008 end-page: 684 ident: bib4 article-title: Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease publication-title: Genetics in Medicine contributor: fullname: Meyer – start-page: e9 year: 2001 ident: bib1 article-title: A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico publication-title: Journal of Medical Genetics contributor: fullname: Quan – volume: 8 start-page: 557 year: 2000 end-page: 560 ident: bib2 article-title: Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population publication-title: European Journal of Human Genetics contributor: fullname: van Oost – volume: 89 start-page: 156 year: 2006 end-page: 163 ident: bib3 article-title: Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease publication-title: Molecular Genetics and Metabolism contributor: fullname: Kolodny |
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| SubjectTerms | Alleles Amidohydrolases - deficiency Amidohydrolases - genetics Base Pairing - genetics Canavan disease Canavan Disease - enzymology Canavan Disease - genetics Child Chromosomes, Human, Pair 17 - genetics Exons - genetics Homozygote Homozygous deletion Humans Male Oligonucleotide Array Sequence Analysis - methods Polymerase Chain Reaction Polymorphism, Single Nucleotide - genetics Sequence Deletion - genetics SNP array |
| Title | 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 |
| URI | https://dx.doi.org/10.1016/j.ymgme.2009.10.011 https://www.ncbi.nlm.nih.gov/pubmed/19932039 https://search.proquest.com/docview/21283776 |
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