The Japanese Biochemical Society

[2P-160] A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder

Shigehiko Tamura1,2, Kanji Okumoto2,3, Akemi J. Tanaka4, Yuichi Abe2, Yoel Hirsch5, Liyong Deng4, Joseph Ekstein5, Wendy K. Chung4, Yukio Fujiki2 (1.Fac. of Arts and Sci. Kyushu Univ., 2.Grad. Sch. of Systems Life Sci., 3.Fac. of Sci. Kyushu Univ., 4.Columbia Univ., 5.Dor Yeshorim)

キーテクノロジー:エクソームシーケンス解析

ペルオキシソーム、病因変異解析

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