𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular Heterogeneity of MArdle's Disease

✍ Scribed by DOMINIQUE DAEGELEN; SOPHIE GAUTRON; FRANÇOIS MENNECIER; JEAN-CLAUDE DREYFUS; AXEL KAHN

Book ID
118723096
Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
230 KB
Volume
478
Category
Article
ISSN
0890-6564

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular heterogeneity in McArdle's dis
Molecular heterogeneity in McArdle's disease
✍ McConchie, Stephen M.; Coakley, John; Edwards, Richard H.T.; Beynon, Robert J. 📂 Article 📅 1990 🏛 Elsevier Science 🌐 English ⚖ 588 KB
Molecular heterogeneity of Krabbe diseas
Molecular heterogeneity of Krabbe disease
✍ L. Fu; K. Inui; T. Nishigaki; N. Tatsumi; H. Tsukamoto; C. Kokubu; T. Muramatsu; 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 78 KB
Danon disease: Further clinical and mole
Danon disease: Further clinical and molecular heterogeneity
✍ Frédérique Sabourdy; Helen Michelakakis; Aris Anastasakis; Virginie Garcia; Iren 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 282 KB

## Abstract Two families of Greek patients with subclinical to severe cardiomyopathy are presented. The diagnosis of Danon disease was supported by a total lack of LAMP2 immunostaining in cultured skin fibroblasts and muscle biopsies. The __LAMP2__ mutation carried by one patient (c.928G>A) has alr