𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Frequency of de novo mutations in Japanese patients with Fabry disease

✍ Scribed by Kobayashi, Masahisa; Ohashi, Toya; Iizuka, Sayoko; Kaneshiro, Eiko; Higuchi, Takashi; Eto, Yoshikatsu; Ida, Hiroyuki

Book ID
125818618
Publisher
Elsevier
Year
2014
Tongue
English
Weight
388 KB
Volume
1
Category
Article
ISSN
2214-4269

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Thrombosis in Japanese patients with Fab
Thrombosis in Japanese patients with Fabry disease
✍ Kouichi Utsumi; Kae Ueda; Megumi Watanabe; Masanori Sakamaki; Kazumasa Arii; Min πŸ“‚ Article πŸ“… 2009 πŸ› Elsevier Science 🌐 English βš– 222 KB
Five novel mutations in fourteen patient
Five novel mutations in fourteen patients with Fabry disease
✍ Kirsten Marie Rosenberg; Raphael Schiffmann; Christine Kaneski; Roscoe O. Brady; πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 20 KB πŸ‘ 2 views

Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme Ξ± Ξ±galactosidase A. The mutations responsible for Fabry disease are diverse and include large rearrangements as well as single base substitutions, and they are dispersed throughout the seven exons of the gene. In th