𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Missense and Nonsense Mutations in the Lysosomal α-Mannosidase Gene (MANB) in Severe and Mild Forms of α-Mannosidosis

✍ Scribed by Yasuo Gotoda; Nobuaki Wakamatsu; Hisaomi Kawai; Yoshihiko Nishida; Toshio Matsumoto


Book ID
117852568
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
521 KB
Volume
63
Category
Article
ISSN
0002-9297

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Identification of novel mutations in the
✍ Anna Buj-Bello; Valérie Biancalana; Céline Moutou; Jocelyn Laporte; Jean-Louis M 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB 👁 2 views

X-linked myotubular myopathy (XLMTM) is a congenital muscular disease characterized by severe hypotonia and generalized muscle weakness, leading in most cases to early postnatal death. The gene responsible for the disease, MTM1, encodes a dual specificity phosphatase, named myotubularin, which is hi