𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria

✍ Scribed by Adriana De Siervi; Victoria E. Parera; Laura S. Varela; Alcira M del C Batlle; María V. Rossetti


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
15 KB
Volume
16
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Molecular study of WISP3 in nine familie
✍ Valérie Delague; Eliane Chouery; Sandra Corbani; Ismat Ghanem; Suhail Aamar; Jud 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 299 KB 👁 2 views

## Abstract Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive syndrome characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints, osteoporosis, and the absence of destructive bone changes. The disorder is