Novel V97G ASAH1 mutation found in Farber disease patients : Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system
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概要
- 論文の詳細を見る
- 2012-05-01
著者
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CHEDRAWI Aziza
Department of Neurosciences, King Faisal Specialist Hospital and Research Centre
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AL-HASSNAN Zuhair
Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre
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KAYA Namik
Department of Genetics, King Faisal Specialist Hospital and Research Centre
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COLAK Dilek
Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Centre
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AL-MUHAIZEA Muhammad
Department of Neurosciences, King Faisal Specialist Hospital and Research Centre
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AL-YOUNES Banan
Department of Genetics, King Faisal Specialist Hospital and Research Centre
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ALBAKHEET Albandary
Department of Genetics, King Faisal Specialist Hospital and Research Centre
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TULBA Sahar
Department of Genetics, King Faisal Specialist Hospital and Research Centre
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- Novel V97G ASAH1 mutation found in Farber disease patients : Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system