✦ LIBER ✦

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

✍ Scribed by Anna Diaz-Font; Bru Cormand; Raül Santamaria; Lluïsa Vilageliu; Daniel Grinberg; Amparo Chabás

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular analysis of Gaucher disease in

✍ Choy, Francis Y. M. ;Woo, Mary ;Der Kaloustian, Vazken M. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 649 KB

Y418C: a novel mutation in exon 9 of the

✍ Renu Tuteja; Narendra Tuteja; Franco Lilliu; Bruno Bembi; Renzo Galanello; Anton 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 203 KB

Three unrelated Gaucher's disease patien

✍ A. J. Walley; I. Ellis; A. Harris 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 264 KB

Mutation in the sphingolipid activator p

✍ Doris Schnabel; Maria Schröder; Konrad Sandhoff 📂 Article 📅 1991 🏛 Elsevier Science 🌐 English ⚖ 283 KB

JAK2V617F mutation and myeloproliferativ

✍ Bryn D. Webb; Neal J. Weinreb; Anthony C. Botti; Brian M. Kirmse; Manisha Balwan 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 131 KB

A pharmacokinetic analysis of a novel en

✍ Ari Zimran; Kenneth Loveday; Candida Fratazzi; Deborah Elstein 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 142 KB