𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys)

✍ Scribed by Andreas Busse; María A. Sánchez; Victoria Monterroso; Marco V. Alvarado; Pedro León


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
270 KB
Volume
128A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


The 1396del a mutation and a missense mu
✍ Véronique Vidal; Jacques-Olivier Bay; Françoise Champomier; Maria Grancho; Laure 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 2 views

The Werner's syndrome ( WS) is a rare recessive disease characterized by an early onset of geriatric disorders. The Werner's syndrome gene ( WRN), recently cloned, encodes for an helicase and therefore plays a role in DNA metabolism and DNA repair. Here, we report the study of a French family with t