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Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

✍ Scribed by Doris Schnabel; Maria Schröder; Konrad Sandhoff

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Detection of a point mutation in sphingo

✍ Mohammad A. Rafi; Xun-Ling Zhang; Gregory DeGala; David A. Wenger 📂 Article 📅 1990 🏛 Elsevier Science 🌐 English ⚖ 645 KB

Mutational analysis in a patient with a

✍ Mohammad A. Rafi; Gregory de Gala; Xun-ling Zhang; David A. Wenger 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 645 KB

Three Gaucher-Disease-Producing Mutation

✍ Beutler, Ernest; Liebman, Howard; Gelbart, Terri; Stefanski, Ellen 📂 Article 📅 2000 🏛 S. Karger AG 🌐 English ⚖ 142 KB

A mutation within the saposin D domain i

✍ Anna Diaz-Font; Bru Cormand; Raül Santamaria; Lluïsa Vilageliu; Daniel Grinberg; 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 202 KB

Gaucher type 2 disease: Identification o

✍ Choy, Francis Y.M.; Humphries, M. Lisa; Ben-Yoseph, Yoav 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

Identification of a new mutation (P178S)

✍ Francis Y. M. Choy; Chao Wei 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 311 KB