𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype

✍ Scribed by Santos, Joana A.; Aróstegui, Juan I.; Brito, Maria J.; Neves, Conceição; Conde, Marta


Book ID
122326917
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
477 KB
Volume
542
Category
Article
ISSN
0378-1119

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A common mutation for mucopolysaccharido
✍ Hamish S. Scott; Tom Litjens; John J. Hopwood; C. Phillip Morris 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 612 KB

Communicated by William S. Sly Mucopolysaccharidosis type I (MI'S-I) is an autosomal recessive genetic disease caused by a deficiency of the glycosidase a-L-iduronidase which is required for the lysosomal degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. Patients with MI'S-

Molecular analysis of the MVK and TNFRSF
✍ Silvia Stojanov; Peter Lohse; Pia Lohse; Florian Hoffmann; Ellen D. Renner; Step 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB 👁 3 views

## Abstract ## Objective To describe biochemical findings and the spectrum of mevalonate kinase (__MVK__) gene mutations as well as an associated __TNFRSF1A__ low‐penetrance variant in a series of patients with clinical features of the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS).