Characterization of two Turkish β-hexosaminidase mutations causing Tay-Sachs disease

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概要

• 論文の詳細を見る
• 2003-04-01

著者

• Sandhoff Konrad

  Kekule-institut Fur Organische Chemie Und Biochemie Universitat Bonn

• OZKARA Hatice

  Department of Biochemistry, Hacettepe University Faculty of Medicine

• Ozkara Hatice

  Department Of Biochemistry Faculty Of Medicine Hacettepe University

関連論文

• A new point mutation (G412 to A) at the last nucleotide of exon 3 of hexosaminidase α-subunit gene affects splicing
• Characterization of two Turkish β-hexosaminidase mutations causing Tay-Sachs disease
• Sphingolipidoses in Turkey
• Sandhoff disease in the Turkish population
• Recent advances in the biochemistry and genetics of sphingolipidoses

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