The Japanese Biochemical Society

[3P-335] Novel variants of ADAMTS3 causing Hennekam lymphangiectasia-lymphoedema syndrome and their expression analysis

Arisa Igarashi1, Yoshio Makita2, Kumiko Yanagi1, Nana Kobayashi1, Yukimi Abe1, Tomomi Hidai1, Makiko Omata1, Kazuhito Satou1, Tadashi Kaname1 (1.Dept. of Genome Med., NCCHD, 2.Education center, Asahikawa Med Univ.)

キーテクノロジー:次世代シーケンス解析

希少疾患、ADAMTS3、リンパ管形成、次世代シーケンス解析

kaname-t@ncchd.go.jp

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