Literature DB >> 11238686

A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico.

F E Tahmaz, S Sam, G E Hoganson, F Quan.   

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Year:  2001        PMID： 11238686      PMCID： PMC1734832          DOI： 10.1136/jmg.38.3.e9

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

Review 1.  N-acetylaspartate in the vertebrate brain: metabolism and function.

Authors:  Morris H Baslow
Journal:  Neurochem Res       Date:  2003-06       Impact factor: 3.996

2.  Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Authors:  B J Zeng; Z H Wang; L A Ribeiro; P Leone; R De Gasperi; S J Kim; S Raghavan; E Ong; G M Pastores; E H Kolodny
Journal:  J Inherit Metab Dis       Date:  2002-11       Impact factor: 4.982

3.  Homozygous deletion of six olfactory receptor genes in a subset of individuals with Beta-thalassemia.

Authors:  Jessica Van Ziffle; Wendy Yang; Farid F Chehab
Journal:  PLoS One       Date:  2011-02-24       Impact factor: 3.240

4.  Infertility associated with meiotic failure in the tremor rat (tm/tm) is caused by the deletion of spermatogenesis associated 22.

Authors:  Satoshi Ishishita; Toshihide Inui; Yoichi Matsuda; Tadao Serikawa; Kazuhiro Kitada
Journal:  Exp Anim       Date:  2013
  4 in total

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