A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico.
作者信息
Tahmaz F E, Sam S, Hoganson G E, Quan F
出版信息
J Med Genet. 2001 Mar;38(3):E9. doi: 10.1136/jmg.38.3.e9.
Abstract
摘要
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A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico.天冬氨酸酰基转移酶基因的部分缺失是墨西哥一个家族中卡纳万病的病因。
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Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.两个新的天冬氨酸酰基转移酶基因（ASPA）错义突变，特定于挪威和瑞典的Canavan病患者。
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Canavan disease: molecular basis of aspartoacylase deficiency.卡纳万病：天冬氨酸酰基转移酶缺乏的分子基础。
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Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.非犹太裔卡纳万病患者天冬氨酸酰基转移酶基因突变分析。
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Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.人天冬氨酸酰基转移酶cDNA的克隆及Canavan病中的一个常见错义突变
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Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish Population.天冬氨酸酰基转移酶基因中Y231位点DNA多态性的频率及其对阿什肯纳兹犹太人群中基于DNA的卡纳万病携带者检测的影响。
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