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

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

Published:2010-02 Issue:2 Volume:99 Page:184-185
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

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

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference4 articles.

1. A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico;Tahmaz;Journal of Medical Genetics,2001

2. Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population;Sistermans;European Journal of Human Genetics,2000

3. Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease;Zeng;Molecular Genetics and Metabolism,2006

4. Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease;Kaya;Genetics in Medicine,2008

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Infertility Associated with Meiotic Failure in the tremor Rat (tm/tm) is Caused by the Deletion of Spermatogenesis Associated 22;Experimental Animals;2013

2. A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists?;Journal of Intellectual Disability Research;2012-06-08

3. Large contiguous gene deletions in Sjögren–Larsson syndrome;Molecular Genetics and Metabolism;2011-11

4. Leptin-dependent serotonin control of appetite: temporal specificity, transcriptional regulation, and therapeutic implications;Journal of Experimental Medicine;2010-12-27

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