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

• CHEDRAWI Aziza K.

  Department of Neurosciences, King Faisal Specialist Hospital and Research Centre

• AL-HASSNAN Zuhair N.

  Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre

• AL-MUHAIZEA Muhammad

  Department of Neurosciences, King Faisal Specialist Hospital and Research Centre

• COLAK Dilek

  Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Centre

• AL-YOUNES Banan

  Department of Genetics, King Faisal Specialist Hospital and Research Centre

• ALBAKHEET Albandary

  Department of Genetics, King Faisal Specialist Hospital and Research Centre

• TULBA Sahar

  Department of Genetics, King Faisal Specialist Hospital and Research Centre

• KAYA Namik

  Department of Genetics, King Faisal Specialist Hospital and Research Centre

収録刊行物

• Brain & development

  Brain & development 34 (5), 400-404, 2012-05-01

キーワード

• ASAH1
• Farber disease
• Novel mutation
• V97G
• Unique phenotype

詳細情報

• CRID: 1572543026027907584
• NII論文ID: 10031050823
• NII書誌ID: AA00111153
• ISSN: 03877604
• Web Site: https://search.jamas.or.jp/link/ui/2013156091
• 本文言語コード: en
• データソース種別:
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