𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in theLMNAgene

✍ Scribed by D. B. Savage; I. McFarlane; I. Barroso; M. A. Soos; A. Powlson; E. L. Thomas; J. D. Bell; I. Scobie; P. E. Belchetz; W. F. Kelly; D. J. Halsall; A. J. Schafer; S. O’Rahilly


Publisher
Springer
Year
2004
Tongue
English
Weight
348 KB
Volume
47
Category
Article
ISSN
0012-186X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Compound heterozygosity for a novel hemi
✍ Candice Hoste; Sabrina Rigutto; Guy Van Vliet; Françoise Miot; Xavier De Deken 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 352 KB

Dual oxidases (DUOX) 1 and 2 are components of the thyroid H 2 O 2 -generating system. H 2 O 2 is used by thyroperoxidase to oxidize iodide for thyroid hormonogenesis. Mutations in the DUOX2 gene have been described in transient and permanent congenital thyroid dyshormonogenesis. We report here a no