✦ LIBER ✦

Mutation analysis of a Japanese patient with fucosidosis

✍ Scribed by Motohiro Akagi; K. Inui; Toshinori Nishigaki; Takashi Muramatsu; Chikara Kokubu; L. Fu; Hisao Fukushima; Itaru Yanagihara; Hiroko Tsukamoto; Hiroki Kurahashi; Shintaro Okada

Publisher: Nature Publishing Group
Year: 1999
Tongue: English
Weight: 97 KB
Volume: 44
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380050169

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation identification and characteriza

Mutation identification and characterization of a Taiwanese patient with fucosidosis

✍ Shuan-Pei Lin; Jui-Hung Chang; Maria Paez de la Cadena; Ting-Fang Chang; Guey-Je 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 172 KB

A single-base deletion mutation in a Tur

A single-base deletion mutation in a Turkish patient with fucosidosis

✍ Hee-Chan Seo; Jürgen Kunze; Patrick J. Willems; Alex H. Kim; Folker Hanefeld; Jo 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 139 KB

A nonsense mutation in two German patien

A nonsense mutation in two German patients with fucosidosis

✍ Hee-Chan Seo; Peter H. Heidemann; Erwin Lutz; John S. O'Brien 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB

Mutation analysis of two Japanese patien

Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome

✍ Motohiro Akagi; Koji Inui; Shigeo Nakajima; Masaaki Shima; Toshinori Nishigaki; 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 54 KB

Mutational and structural analysis of Ja

Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II

✍ Tomomi Kato; Zenichiro Kato; Izumi Kuratsubo; Noboru Tanaka; Tabito Ishigami; Ju 📂 Article 📅 2005 🏛 Nature Publishing Group 🌐 English ⚖ 356 KB

Missense mutation (I143T) in a Japanese

Missense mutation (I143T) in a Japanese patient with Canavan disease

✍ Keiko Kobayashi; Seiichi Tsujino; Takanori Ezoe; Hiroshi Hamaguchi; Kenji Nihei; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 175 KB